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Protein Coding Gene : Pdha1 pyruvate dehydrogenase E1 alpha 1

Primary Identifier  MGI:97532 Organism  mouse, laboratory
Chromosome  X NCBI Gene Number  18597
Mgi Type  protein coding gene
description  FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0)

Enables pyruvate dehydrogenase (NAD+) activity. Acts upstream of or within acetyl-CoA biosynthetic process from pyruvate. Located in mitochondrion. Part of catalytic complex. Is expressed in several structures, including alimentary system; metanephros; nervous system; respiratory system; and sensory organ. Human ortholog(s) of this gene implicated in pyruvate decarboxylase deficiency. Orthologous to human PDHA1 (pyruvate dehydrogenase E1 subunit alpha 1).
PHENOTYPE: Mice homozygous for a knock-out allele die by E12.5. [provided by MGI curators]
  • synonyms:
  • MGD-MRK-13218,
  • Pdha1,
  • pyruvate dehydrogenase E1 alpha 1,
  • MGD-MRK-13219,
  • Pdha-1,
  • pyruvate dehydrogenase E1alpha subunit

Features --> Cross References

Genome

Sequence Feature Displayer

JG Browse Displayer

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

11 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