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Search results 1 to 100 out of 117 for Mmadhc

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Type Details Score
Gene
Type: gene
Organism: human
Gene
Type: gene
Organism: chimpanzee
Gene
Type: gene
Organism: cattle
Gene
Type: gene
Organism: chicken
Gene
Type: gene
Organism: macaque, rhesus
Gene
Type: gene
Organism: frog, western clawed
Gene
Type: gene
Organism: rat
Gene
Type: gene
Organism: dog, domestic
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Domain
Type: Family
Description: This entry represents methylmalonic aciduria and homocystinuria type D protein (also known as cobalamin trafficking protein CblD) and homologues. These proteins are involved in cobalamin (vitamin B12) metabolism and trafficking [, , , ]CblD plays a role in regulating the biosynthesis and the proportion of two coenzymes, methylcob(III)alamin (MeCbl) and 5'-deoxyadenosylcobalamin (AdoCbl) [, , ]. It also promotes the oxidation of cob(II)alamin bound to MMACHC [].
Gene
Type: gene
Organism: human
Gene
Type: gene
Organism: human
Gene
Type: gene
Organism: human
Publication
First Author: Pupavac M
Year: 2011
Journal: Mol Genet Metab
Title: Expression of Mmachc and Mmadhc during mouse organogenesis.
Volume: 103
Issue: 4
Pages: 401-5
Protein
Organism: Mus musculus/domesticus
Length: 296  
Fragment?: false
Protein
Organism: Mus musculus/domesticus
Length: 219  
Fragment?: true
Protein
Organism: Mus musculus/domesticus
Length: 179  
Fragment?: true
Publication
First Author: Coelho D
Year: 2008
Journal: N Engl J Med
Title: Gene identification for the cblD defect of vitamin B12 metabolism.
Volume: 358
Issue: 14
Pages: 1454-64
Publication
First Author: Jusufi J
Year: 2014
Journal: J Inherit Metab Dis
Title: Characterization of functional domains of the cblD (MMADHC) gene product.
Volume: 37
Issue: 5
Pages: 841-9
Publication
First Author: Yamada K
Year: 2015
Journal: J Biol Chem
Title: Structure of Human B12 Trafficking Protein CblD Reveals Molecular Mimicry and Identifies a New Subfamily of Nitro-FMN Reductases.
Volume: 290
Issue: 49
Pages: 29155-66
Publication
First Author: Gherasim C
Year: 2013
Journal: Biochimie
Title: The C-terminal domain of CblD interacts with CblC and influences intracellular cobalamin partitioning.
Volume: 95
Issue: 5
Pages: 1023-32
Publication
First Author: Stucki M
Year: 2012
Journal: Hum Mol Genet
Title: Molecular mechanisms leading to three different phenotypes in the cblD defect of intracellular cobalamin metabolism.
Volume: 21
Issue: 6
Pages: 1410-8
Publication
First Author: Mah W
Year: 2013
Journal: Mol Genet Metab
Title: Subcellular location of MMACHC and MMADHC, two human proteins central to intracellular vitamin B(12) metabolism.
Volume: 108
Issue: 2
Pages: 112-8
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus caroli
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: mouse, laboratory
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus pahari
Protein Coding Gene
Type: protein_coding_gene
Organism: Mus spretus
Publication
First Author: Li Z
Year: 2020
Journal: J Am Chem Soc
Title: An Interprotein Co-S Coordination Complex in the B12-Trafficking Pathway.
Volume: 142
Issue: 38
Pages: 16334-16345
GXD Expression    
Probe: MGI:7516704
Assay Type: RT-PCR
Annotation Date: 2023-08-11
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1684714
Stage: TS14
Assay Id: MGI:7516740
Age: embryonic day 9.0
Image: 3
Specimen Label: E9
Detected: true
Specimen Num: 1
GXD Expression    
Probe: MGI:7516704
Assay Type: RT-PCR
Annotation Date: 2023-08-11
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1684618
Stage: TS18
Assay Id: MGI:7516740
Age: embryonic day 11.0
Image: 3
Specimen Label: E11
Detected: true
Specimen Num: 2
GXD Expression    
Probe: MGI:7516704
Assay Type: RT-PCR
Annotation Date: 2023-08-11
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1684621
Stage: TS21
Assay Id: MGI:7516740
Age: embryonic day 13.0
Image: 3
Specimen Label: E13
Detected: true
Specimen Num: 3
GXD Expression    
Probe: MGI:7516704
Assay Type: RT-PCR
Annotation Date: 2023-08-11
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1684623
Stage: TS23
Assay Id: MGI:7516740
Age: embryonic day 15.0
Image: 3
Specimen Label: E15
Detected: true
Specimen Num: 4
GXD Expression    
Probe: MGI:7516704
Assay Type: RT-PCR
Annotation Date: 2023-08-11
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1684625
Stage: TS25
Assay Id: MGI:7516740
Age: embryonic day 17.0
Image: 3
Specimen Label: E17
Detected: true
Specimen Num: 5
GXD Expression    
Probe: MGI:7516704
Assay Type: RT-PCR
Annotation Date: 2023-08-11
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1684627
Stage: TS27
Assay Id: MGI:7516740
Age: postnatal day 0
Image: 3
Specimen Label: P0
Detected: true
Specimen Num: 6
GXD Expression    
Probe: MGI:7516704
Assay Type: RT-PCR
Annotation Date: 2023-08-11
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1684627
Stage: TS27
Assay Id: MGI:7516740
Age: postnatal day 3
Image: 3
Specimen Label: P3
Detected: true
Specimen Num: 7
GXD Expression    
Probe: MGI:7516704
Assay Type: RT-PCR
Annotation Date: 2023-08-11
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1684628
Stage: TS28
Assay Id: MGI:7516740
Age: postnatal day 5
Image: 3
Specimen Label: P5
Detected: true
Specimen Num: 8
GXD Expression    
Probe: MGI:7516704
Assay Type: RT-PCR
Annotation Date: 2023-08-11
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1684628
Stage: TS28
Assay Id: MGI:7516740
Age: postnatal day 10
Image: 3
Specimen Label: P10
Detected: true
Specimen Num: 9
GXD Expression    
Probe: MGI:7516704
Assay Type: RT-PCR
Annotation Date: 2023-08-11
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1684628
Stage: TS28
Assay Id: MGI:7516740
Age: postnatal day 15
Image: 3
Specimen Label: P15
Detected: true
Specimen Num: 10
GXD Expression    
Probe: MGI:7516704
Assay Type: RT-PCR
Annotation Date: 2023-08-11
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1684628
Stage: TS28
Assay Id: MGI:7516981
Age: postnatal week 6
Image: S1
Specimen Label: 129S2/SVPASCRL
Detected: true
Specimen Num: 1
GXD Expression    
Probe: MGI:7516704
Assay Type: RT-PCR
Annotation Date: 2023-08-11
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1684628
Stage: TS28
Assay Id: MGI:7516981
Age: postnatal week 6
Image: S1
Specimen Label: BALB/cByJ
Detected: true
Specimen Num: 2
GXD Expression    
Probe: MGI:7516704
Assay Type: RT-PCR
Annotation Date: 2023-08-11
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1684628
Stage: TS28
Assay Id: MGI:7516981
Age: postnatal week 6
Image: S1
Specimen Label: C57BL/6NCRL
Detected: true
Specimen Num: 3
GXD Expression    
Probe: MGI:7516704
Assay Type: RT-PCR
Annotation Date: 2023-08-11
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1684628
Stage: TS28
Assay Id: MGI:7516981
Age: postnatal week 6
Image: S1
Specimen Label: DBA/2J
Detected: true
Specimen Num: 4
GXD Expression    
Probe: MGI:7516704
Assay Type: RT-PCR
Annotation Date: 2023-08-11
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1684628
Stage: TS28
Assay Id: MGI:7516981
Age: postnatal week 6
Image: S1
Specimen Label: FVB/NCRL
Detected: true
Specimen Num: 5
GXD Expression    
Probe: MGI:7516704
Assay Type: RT-PCR
Annotation Date: 2023-08-11
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1684628
Stage: TS28
Assay Id: MGI:7516981
Age: postnatal week 6
Image: S1
Specimen Label: C3H/HeNCrl
Detected: true
Specimen Num: 6
GXD Expression    
Probe: MGI:7516704
Assay Type: RT-PCR
Annotation Date: 2023-08-11
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1608914
Stage: TS14
Assay Id: MGI:7516892
Age: embryonic day 9.0
Image: 6
Specimen Label: E9
Detected: true
Specimen Num: 1
GXD Expression    
Probe: MGI:7516704
Assay Type: RT-PCR
Annotation Date: 2023-08-11
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1689418
Stage: TS18
Assay Id: MGI:7516892
Age: embryonic day 11.0
Image: 6
Specimen Label: E11
Detected: true
Specimen Num: 2
GXD Expression    
Probe: MGI:7516704
Assay Type: RT-PCR
Annotation Date: 2023-08-11
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1689421
Stage: TS21
Assay Id: MGI:7516892
Age: embryonic day 13.0
Image: 6
Specimen Label: E13
Detected: true
Specimen Num: 3
GXD Expression    
Probe: MGI:7516704
Assay Type: RT-PCR
Annotation Date: 2023-08-11
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1689423
Stage: TS23
Assay Id: MGI:7516892
Age: embryonic day 15.0
Image: 6
Specimen Label: E15
Detected: true
Specimen Num: 4
GXD Expression    
Probe: MGI:7516704
Assay Type: RT-PCR
Annotation Date: 2023-08-11
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1689425
Stage: TS25
Assay Id: MGI:7516892
Age: embryonic day 17.0
Image: 6
Specimen Label: E17
Detected: true
Specimen Num: 5
GXD Expression    
Probe: MGI:7516704
Assay Type: RT-PCR
Annotation Date: 2023-08-11
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1689427
Stage: TS27
Assay Id: MGI:7516892
Age: postnatal day 0
Image: 6
Specimen Label: P0
Detected: true
Specimen Num: 6
GXD Expression    
Probe: MGI:7516704
Assay Type: RT-PCR
Annotation Date: 2023-08-11
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1689427
Stage: TS27
Assay Id: MGI:7516892
Age: postnatal day 3
Image: 6
Specimen Label: P3
Detected: true
Specimen Num: 7
GXD Expression    
Probe: MGI:7516704
Assay Type: RT-PCR
Annotation Date: 2023-08-11
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1689428
Stage: TS28
Assay Id: MGI:7516892
Age: postnatal day 5
Image: 6
Specimen Label: P5
Detected: true
Specimen Num: 8
GXD Expression    
Probe: MGI:7516704
Assay Type: RT-PCR
Annotation Date: 2023-08-11
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1689428
Stage: TS28
Assay Id: MGI:7516892
Age: postnatal day 10
Image: 6
Specimen Label: P10
Detected: true
Specimen Num: 9
GXD Expression    
Probe: MGI:7516704
Assay Type: RT-PCR
Annotation Date: 2023-08-11
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1689428
Stage: TS28
Assay Id: MGI:7516892
Age: postnatal day 15
Image: 6
Specimen Label: P15
Detected: true
Specimen Num: 10
GXD Expression    
Probe: MGI:5288053
Assay Type: RNA in situ
Annotation Date: 2011-10-04
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1619819
Pattern: Not Specified
Stage: TS19
Assay Id: MGI:5288177
Age: embryonic day 11.5
Specimen Label: 1V
Detected: true
Specimen Num: 10
GXD Expression    
Probe: MGI:5288053
Assay Type: RNA in situ
Annotation Date: 2011-10-04
Strength: Strong
Sex: Not Specified
Emaps: EMAPS:1609619
Pattern: Not Specified
Stage: TS19
Assay Id: MGI:5288177
Age: embryonic day 11.5
Specimen Label: 1N
Detected: true
Specimen Num: 2
GXD Expression    
Probe: MGI:5288053
Assay Type: RNA in situ
Annotation Date: 2011-10-04
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1609619
Pattern: Not Specified
Stage: TS19
Assay Id: MGI:5288177
Age: embryonic day 11.5
Specimen Label: 1V
Detected: true
Specimen Num: 10
GXD Expression    
Probe: MGI:5288053
Assay Type: RNA in situ
Annotation Date: 2011-10-04
Strength: Strong
Sex: Not Specified
Emaps: EMAPS:1672819
Pattern: Not Specified
Stage: TS19
Assay Id: MGI:5288177
Age: embryonic day 11.5
Specimen Label: 1N
Detected: true
Specimen Num: 2
GXD Expression  
Probe: MGI:5288053
Assay Type: RNA in situ
Annotation Date: 2011-10-04
Strength: Strong
Sex: Not Specified
Emaps: EMAPS:1672819
Pattern: Regionally restricted
Stage: TS19
Assay Id: MGI:5288177
Age: embryonic day 11.5
Note: Expression is in lung endoderm with lower expression in surrounding mesoderm.
Specimen Label: 1R
Detected: true
Specimen Num: 6
GXD Expression    
Probe: MGI:5288053
Assay Type: RNA in situ
Annotation Date: 2011-10-04
Strength: Strong
Sex: Not Specified
Emaps: EMAPS:1666819
Pattern: Not Specified
Stage: TS19
Assay Id: MGI:5288177
Age: embryonic day 11.5
Specimen Label: 1N
Detected: true
Specimen Num: 2
GXD Expression    
Probe: MGI:5288053
Assay Type: RNA in situ
Annotation Date: 2011-10-04
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1666819
Pattern: Not Specified
Stage: TS19
Assay Id: MGI:5288177
Age: embryonic day 11.5
Specimen Label: 1O
Detected: true
Specimen Num: 3
GXD Expression    
Probe: MGI:5288053
Assay Type: RNA in situ
Annotation Date: 2011-10-04
Strength: Strong
Sex: Not Specified
Emaps: EMAPS:1610519
Pattern: Not Specified
Stage: TS19
Assay Id: MGI:5288177
Age: embryonic day 11.5
Specimen Label: 1N
Detected: true
Specimen Num: 2
GXD Expression    
Probe: MGI:5288053
Assay Type: RNA in situ
Annotation Date: 2011-10-04
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1610519
Pattern: Not Specified
Stage: TS19
Assay Id: MGI:5288177
Age: embryonic day 11.5
Specimen Label: 1P
Detected: true
Specimen Num: 4
GXD Expression  
Probe: MGI:5288053
Assay Type: RNA in situ
Annotation Date: 2011-10-04
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1603919
Pattern: Not Specified
Stage: TS19
Assay Id: MGI:5288177
Age: embryonic day 11.5
Note: The authors state that expression was present in all cells of the embryo.
Specimen Label: Not shown
Detected: true
Specimen Num: 11
GXD Expression    
Probe: MGI:5288053
Assay Type: RNA in situ
Annotation Date: 2011-10-04
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1674419
Pattern: Not Specified
Stage: TS19
Assay Id: MGI:5288177
Age: embryonic day 11.5
Specimen Label: 1O
Detected: true
Specimen Num: 3
GXD Expression    
Probe: MGI:5288053
Assay Type: RNA in situ
Annotation Date: 2011-10-04
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1684619
Pattern: Not Specified
Stage: TS19
Assay Id: MGI:5288177
Age: embryonic day 11.5
Specimen Label: 1U
Detected: true
Specimen Num: 9
GXD Expression    
Probe: MGI:5288053
Assay Type: RNA in situ
Annotation Date: 2011-10-04
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1674519
Pattern: Not Specified
Stage: TS19
Assay Id: MGI:5288177
Age: embryonic day 11.5
Specimen Label: 1Q
Detected: true
Specimen Num: 5
GXD Expression    
Probe: MGI:5288053
Assay Type: RNA in situ
Annotation Date: 2011-10-04
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1616419
Pattern: Not Specified
Stage: TS19
Assay Id: MGI:5288177
Age: embryonic day 11.5
Specimen Label: 1T
Detected: true
Specimen Num: 8
GXD Expression    
Probe: MGI:5288053
Assay Type: RNA in situ
Annotation Date: 2011-10-04
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1674719
Pattern: Not Specified
Stage: TS19
Assay Id: MGI:5288177
Age: embryonic day 11.5
Specimen Label: 1Q
Detected: true
Specimen Num: 5
GXD Expression    
Probe: MGI:5288053
Assay Type: RNA in situ
Annotation Date: 2011-10-04
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1702119
Pattern: Not Specified
Stage: TS19
Assay Id: MGI:5288177
Age: embryonic day 11.5
Specimen Label: 1O
Detected: true
Specimen Num: 3
GXD Expression    
Probe: MGI:5288053
Assay Type: RNA in situ
Annotation Date: 2011-10-04
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1619119
Pattern: Not Specified
Stage: TS19
Assay Id: MGI:5288177
Age: embryonic day 11.5
Specimen Label: 1T
Detected: true
Specimen Num: 8
GXD Expression    
Probe: MGI:5288053
Assay Type: RNA in situ
Annotation Date: 2011-10-04
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1609819
Pattern: Not Specified
Stage: TS19
Assay Id: MGI:5288177
Age: embryonic day 11.5
Specimen Label: 1M
Detected: true
Specimen Num: 1
GXD Expression  
Probe: MGI:5288053
Assay Type: RNA in situ
Annotation Date: 2011-10-04
Strength: Strong
Sex: Not Specified
Emaps: EMAPS:1625519
Pattern: Regionally restricted
Stage: TS19
Assay Id: MGI:5288177
Age: embryonic day 11.5
Note: Expression is in midgut endoderm and is lower in mesenchyme.
Specimen Label: 1S
Detected: true
Specimen Num: 7
Publication      
First Author: Tian C
Year: 2019
Journal: Dev Biol
Title: TBX1 is required for normal stria vascularis and semicircular canal development.
Publication
First Author: Imbard A
Year: 2021
Journal: Sci Rep
Title: Liver and brain differential expression of one-carbon metabolism genes during ontogenesis.
Volume: 11
Issue: 1
Pages: 21132
Publication      
First Author: MGI and IMPC
Year: 2018
Journal: Database Release
Title: MGI Load of Endonuclease-Mediated Alleles (CRISPR) from the International Mouse Phenotyping Consortium (IMPC)
Publication        
First Author: Mouse Genome Informatics Scientific Curators
Year: 2002
Title: Mouse Genome Informatics Computational Sequence to Gene Associations for FANTOM2 data
Publication      
First Author: Lennon G
Year: 1999
Journal: Database Download
Title: WashU-HHMI Mouse EST Project
Publication      
First Author: Wellcome Trust Sanger Institute
Year: 2009
Journal: MGI Direct Data Submission
Title: Alleles produced for the KOMP project by the Wellcome Trust Sanger Institute
Publication        
First Author: The Gene Ontology Consortium
Year: 2014
Title: Automated transfer of experimentally-verified manual GO annotation data to mouse-rat orthologs
Publication
First Author: Kawai J
Year: 2001
Journal: Nature
Title: Functional annotation of a full-length mouse cDNA collection.
Volume: 409
Issue: 6821
Pages: 685-90
Publication        
First Author: MGD Nomenclature Committee
Year: 1995
Title: Nomenclature Committee Use
Publication      
First Author: Mouse Genome Informatics (MGI) and National Center for Biotechnology Information (NCBI)
Year: 2008
Journal: Database Download
Title: Mouse Gene Trap Data Load from dbGSS
Publication
First Author: Skarnes WC
Year: 2011
Journal: Nature
Title: A conditional knockout resource for the genome-wide study of mouse gene function.
Volume: 474
Issue: 7351
Pages: 337-42
Publication        
First Author: AgBase, BHF-UCL, Parkinson's UK-UCL, dictyBase, HGNC, Roslin Institute, FlyBase and UniProtKB curators
Year: 2011
Title: Manual transfer of experimentally-verified manual GO annotation data to orthologs by curator judgment of sequence similarity