BCKDHB

Name

branched chain keto acid dehydrogenase E1 subunit beta

Type

protein-coding

Position

80,106,626–80,384,773 (+)

Aliases

BCKDE1B, BCKDH E1-beta, E1B, MSUD1B, OVD1B

Ensembl

ENSG00000083123

RefSeq RNA

NM_000056.5, NM_001318975.1, NM_001424035.1, NM_001424036.1, NM_001424037.1

RefSeq protein

NP_000047.1, NP_001305904.1, NP_001410964.1, NP_001410965.1, NP_001410966.1

This gene encodes the E1 beta subunit of branched-chain keto acid dehydrogenase, which is a multienzyme complex associated with the inner membrane of mitochondria. This enzyme complex functions in the catabolism of branched-chain amino acids. Mutations in this gene have been associated with maple syrup urine disease (MSUD), type 1B, a disease characterized by a maple syrup odor to the urine in addition to mental and physical retardation and feeding problems. Alternative splicing at this locus results in multiple transcript variants. [provided by RefSeq, Jan 2016].

via MyGene.info

Gene · Ensembl

branched chain keto acid dehydrogenase E1 subunit beta

Symbol

BCKDHB

Biotype

Protein coding

Organism

Homo sapiens

Location

6:80,106,626-80,384,773

Strand

Forward (+)

Assembly

GRCh38

Wikidata facts

Instance of

gene

Image

Protein BCKDHB PDB 1dtw.png

via Wikidata · CC0