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 BCKDHB

Stable symbol

HGNC data for BCKDHB

Approved symbol
BCKDHB
Approved name

branched chain keto acid dehydrogenase E1 subunit beta

Locus type
gene with protein product
HGNC ID
HGNC:987
Symbol status
Approved
Previous names
branched chain keto acid dehydrogenase E1, beta polypeptide
Alias symbols
OVD1B
Alias names
maple syrup urine disease
2-oxoisovalerate dehydrogenase subunit beta, mitochondrial
Chromosomal location
6q14.1
Gene resources for BCKDHB
Ensembl
ENSG00000083123 Curated
Ensembl region in detailEnsembl gene sequence
NCBI Gene
594 Curated
UCSC
uc003pje.3
Alliance of Genome Resources
HGNC:987
Nucleotide resources for BCKDHB
MANE Select
NM_183050.4
ENST00000320393.9
INSDC
M55575 Curated
ENAGenBankDDBJ
RefSeq
NM_000056 Curated
NCBI sequence viewer
CCDS
CCDS4994 Curated
Protein resources for BCKDHB
UniProt/Swiss-Prot
P21953
InterProPDBeReactome
AlphaFold
AF-P21953-F1
Orthologs from selected species for BCKDHB
Bos taurus
BCKDHB VGNC:97245 VGNC
Canis familiaris
BCKDHB VGNC:38406 VGNC
Equus caballus
BCKDHB VGNC:15788 VGNC
Felis catus
BCKDHB VGNC:69243 VGNC
Macaca mulatta
BCKDHB VGNC:70239 VGNC
Mus musculus
Bckdhb MGI:88137 Curated
Pan troglodytes
BCKDHB VGNC:12760 VGNC
Rattus norvegicus
Bckdhb RGD:2197
Sus scrofa
BCKDHB VGNC:85777 VGNC
Clinical resources for BCKDHB
OMIM
248611
GenCC
HGNC:987
MedlinePlus
Search via BCKDHB
DECIPHER
Search via BCKDHB
ClinGen
Search via HGNC:987
Genetic Testing Registry
Search via NCBI Gene ID 594
ClinVar
Search via NCBI Gene ID 594
dbVar
Search via NCBI Gene ID 594
Orphanet
119005
Other resources for BCKDHB
AmiGO
Search via P21953
QuickGO
Search via P21953
BioGPS
Search via NCBI Gene ID 594
GeneCards
Search via HGNC:987
Monarch
Search via HGNC:987
WikiGenes
Search via NCBI Gene ID 594
References for BCKDHB