Gene Symbol Report 
BCKDHA
| Approved Symbol |
BCKDHA |
|---|---|
| Approved Name |
branched chain keto acid dehydrogenase E1, alpha polypeptide |
| HGNC ID |
HGNC:986 |
| Previous Symbols & Names |
"2-oxoisovalerate dehydrogenase (lipoamide)", "branched chain keto acid dehydrogenase E1, alpha polypeptide (maple syrup urine disease)", OVD1A |
| Synonyms |
"maple syrup urine disease", MSU |
| Locus Type |
gene with protein product |
| Chromosomal Location |
19q13.1-q13.2 |
| HOMOLOGS |
MGI:107701 C Mouse Symbol: Bckdha RGD:2196 D Rat Symbol: Bckdha HCOP D TreeFam D |
|
|---|---|---|
| NUCLEOTIDE SEQUENCES |
GenBank:J04474 EMBL-Bank DDBJ C RefSeq:NM_000709 C CCDS:CCDS12581.1 C Vega:OTTHUMG00000168128 C |
|
| GENE RESOURCES |
Entrez Gene:593 C Ensembl:ENSG00000248098 C UCSC:uc002oqq.3 D Vega:OTTHUMG00000168128 C |
NCBI Sequence Viewer Ensembl Genome Browser UCSC Genome Browser Vega Genome Browser |
| PROTEIN RESOURCES |
UniProtKB:P12694 D InterPro D |
|
| CLINICAL RESOURCES |
OMIM D GeneTests D Orphanet D DECIPHER D COSMIC D Genetic Testing Registry C |
|
| OTHER DATABASE LINKS |
GENATLAS D GeneCards D GOPubmed D H-InvDB D QuickGO D Reactome D WikiGenes D |
|
