PDHA2 pyruvate dehydrogenase E1 subunit alpha 2
Gene ID: 5161, updated on 11-Apr-2024Gene type: protein coding
Also known as: PDHAL; SPGF70
- See all available tests in GTR for this gene
- Go to complete Gene record for PDHA2
- Go to Variation Viewer for PDHA2 variants
Summary
Enables pyruvate dehydrogenase (acetyl-transferring) activity. Involved in pyruvate metabolic process. Located in mitochondrion and nucleolus. [provided by Alliance of Genome Resources, Apr 2022]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Spermatogenic failure 70 | not available |
Genomic context
- Location:
- 4q22.3
- Sequence:
- Chromosome: 4; NC_000004.12 (95840093..95841464)
- Total number of exons:
- 1
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for PDHA2 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- Variation ViewerRelated Variants
IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.