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Protein Coding Gene : Sdhd succinate dehydrogenase complex, subunit D, integral membrane protein

Primary Identifier  MGI:1914175 Organism  mouse, laboratory
Chromosome  9 NCBI Gene Number  66925
Mgi Type  protein coding gene
description  FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0)

Enables succinate dehydrogenase (quinone) activity. Acts upstream of or within cellular response to hypoxia and regulation of catecholamine secretion. Located in mitochondrion. Part of succinate dehydrogenase complex (ubiquinone). Is expressed in several structures, including alimentary system; genitourinary system; nervous system; respiratory system; and sensory organ. Human ortholog(s) of this gene implicated in Carney-Stratakis syndrome; mitochondrial complex II deficiency; and paraganglioma. Orthologous to human SDHD (succinate dehydrogenase complex subunit D).
PHENOTYPE: Homozygous null mice die before E7.5. Heterozygotes show a deficiency in succinate dehydrogenase activity and an abnormal enhancement of resting carotid body activity due to a decrease of potassium conductance and persistent calcium influx into glomus cells. [provided by MGI curators]
  • synonyms:
  • C78570,
  • RIKEN cDNA 3110001M13 gene,
  • Sdhd,
  • 3110001M13Rik,
  • expressed sequence C78570,
  • MGI:2143396,
  • succinate dehydrogenase complex, subunit D, integral membrane protein

Features --> Cross References

Genome

Sequence Feature Displayer

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0 Canonical

0 CDSs

0 Exons

0 Genomic Clusters

0 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

4 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

 

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0 Driver For