BCAT1

This gene encodes the cytosolic form of the enzyme branched-chain amino acid transaminase. This enzyme catalyzes the reversible transamination of branched-chain alpha-keto acids to branched-chain L-amino acids essential for cell growth. Two different clinical disorders have been attributed to a defect of branched-chain amino acid transamination: hypervalinemia and hyperleucine-isoleucinemia. As there is also a gene encoding a mitochondrial form of this enzyme, mutations in either gene may contribute to these disorders. Alternatively spliced transcript variants have been described. [provided by RefSeq, May 2010]

Description

Branched chain amino acid transaminase 1

Tissue specificity

Tissue enhanced (pancreas)

Predicted location

Intracellular

Protein family

Enzymes
Mapped to neXtProt
Mapped to UniProt SWISS-PROT
Metabolic proteins
Predicted intracellular proteins
Protein evidence (Ezkurdia et al 2014)
Protein evidence (Kim et al 2014)

Chromosome

12 (24810024 - 24949101)

Ensembl ID

ENSG00000060982  (ver. 103.38)

Orthologs

Mouse Bcat1: ENSMUSG00000030268

UniProt

P54687

neXtProt

NX_P54687

Human splice variants
Mouse splice variants

Protein structure