All download files including the archive files are now in a publicly accessible Google Storage Bucket. Downloads page links have been updated.

Not found

Our G-nome assistant hasn't been able to find this symbol report. Please check the URL or use our search to find what you are looking for.

Symbol report for BCKDHA

Stable symbol

HGNC data for BCKDHA

Approved symbol
BCKDHA
Approved name

branched chain keto acid dehydrogenase E1 subunit alpha

Locus type
gene with protein product
HGNC ID
HGNC:986
Symbol status
Approved
Previous symbols
OVD1A
Previous names
branched chain keto acid dehydrogenase E1, alpha polypeptide (maple syrup urine disease)
2-oxoisovalerate dehydrogenase (lipoamide)
branched chain keto acid dehydrogenase E1, alpha polypeptide
Alias symbols
MSU
Alias names
maple syrup urine disease
2-oxoisovalerate dehydrogenase subunit alpha, mitochondrial
Chromosomal location
19q13.2
Gene resources for BCKDHA
Ensembl
ENSG00000248098 Curated
Ensembl region in detailEnsembl gene sequence
NCBI Gene
593 Curated
UCSC
uc002oqq.4
Alliance of Genome Resources
HGNC:986
Nucleotide resources for BCKDHA
MANE Select
NM_000709.4
ENST00000269980.7
INSDC
J04474 Curated
ENAGenBankDDBJ
RefSeq
NM_000709 Curated
NCBI sequence viewer
CCDS
CCDS12581 Curated
Protein resources for BCKDHA
UniProt/Swiss-Prot
P12694
InterProPDBeReactome
AlphaFold
AF-P12694-F1
Orthologs from selected species for BCKDHA
Mus musculus
Bckdha MGI:107701 Curated
Rattus norvegicus
Bckdha RGD:2196
Clinical resources for BCKDHA
OMIM
608348
GenCC
HGNC:986
MedlinePlus
Search via BCKDHA
DECIPHER
Search via BCKDHA
ClinGen
Search via HGNC:986
Genetic Testing Registry
Search via NCBI Gene ID 593
ClinVar
Search via NCBI Gene ID 593
dbVar
Search via NCBI Gene ID 593
Orphanet
119002
Other resources for BCKDHA
AmiGO
Search via P12694
QuickGO
Search via P12694
BioGPS
Search via NCBI Gene ID 593
GeneCards
Search via HGNC:986
Monarch
Search via HGNC:986
WikiGenes
Search via NCBI Gene ID 593
References for BCKDHA