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Gene basic information

LiverAtlas Gene ID

HuLG000414

Entrez Gene ID

594

Official Gene Symbol

BCKDHB

Synonyms

E1B|FLJ17880|dJ279A18.1

Gene name

branched chain keto acid dehydrogenase E1, beta polypeptide

Gene Type

protein-coding

Chromosome

6

Genomics Location

6q14.1

Protein products

2-oxoisovalerate dehydrogenase subunit beta, mitochondrial

Branched chain keto acid dehydrogenase E1, beta polypeptide

Related liver disease name

Hepatocellular carcinoma

Database cross reference

HGNC:987
MIM:248611
Ensembl:ENSG00000083123
HPRD:02011
RefSeq Genomic nucleotide accession:AC_000049
RefSeq Genomic nucleotide gi:89161209

Liver relevance

HCC significant genes

Yes/No

Yes

Evidence

EHCO HCC.net

Quality score

 

Ontology annotation

GO ID

GO annotation

GO:0003826

alpha-ketoacid dehydrogenase activity

GO:0003863

3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity

GO:0005515

protein binding

GO:0005739

mitochondrion

GO:0005759

mitochondrial matrix

GO:0005947

mitochondrial alpha-ketoglutarate dehydrogenase complex

GO:0009083

branched chain family amino acid catabolic process

GO:0016831

carboxy-lyase activity

GO:0034641

cellular nitrogen compound metabolic process