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Protein Coding Gene : Colgalt1 collagen beta(1-O)galactosyltransferase 1

Primary Identifier  MGI:1924348 Organism  mouse, laboratory
Chromosome  8 NCBI Gene Number  234407
Mgi Type  protein coding gene
description  FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0)

Predicted to enable procollagen galactosyltransferase activity. Predicted to be involved in positive regulation of collagen fibril organization. Predicted to be located in endoplasmic reticulum lumen. Is expressed in axial skeleton and embryo. Human ortholog(s) of this gene implicated in brain small vessel disease 3. Orthologous to human COLGALT1 (collagen beta(1-O)galactosyltransferase 1).
PHENOTYPE: Mice homozygous for a null allele display lethality during organogenesis, growth retardation, and abnormalities of the placenta and liver. Mice heterozygous for a null allele display impaired growth and increased susceptibility to live injury. [provided by MGI curators]
  • synonyms:
  • Colgalt1,
  • glycosyltransferase 25 domain containing 1,
  • collagen beta(1-O)galactosyltransferase 1,
  • MGC:38524,
  • 2810024B22Rik,
  • Glt25d1,
  • RIKEN cDNA 2810024B22 gene

Features --> Cross References

Genome

Sequence Feature Displayer

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0 Canonical

0 CDSs

0 Exons

0 Genomic Clusters

1 Involved In Mutations

0 Strain

0 Transcripts

0 Transgenic Expressors

0 UTRs

Canonical gene --> CDSs in specific strains.

Canonical gene --> Exons in specific strains

Canonical gene --> Strain-specific IDs, biotypes, and locations

Canonical gene --> Transcripts in specific strains.

Features --> Overlapping features

Proteins

Gene --> Proteins

Function

Mouse features --> Functions (GO terms)

Homology

Genes --> Homologs

Interactions

3 Pathways

0 Targeted By

Gene --> Protein-Protein Interactions

Expression

Gene --> Expression annotations

Phenotype

Genes/Features --> Phenotypes (MP terms)

Disease

Mouse features --> Human diseases

Literature

Mouse features --> Publications

 

Other

0 Driver For