Branched chain amino acid transaminase 1

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Identifiers
Aliases
External IDs	GeneCards: [1]
Orthologs
Species	Human	Mouse
Entrez	n/a	n/a
Ensembl	n/a	n/a
UniProt	n/a	n/a
RefSeq (mRNA)	n/a	n/a
RefSeq (protein)	n/a	n/a
Location (UCSC)	n/a	n/a
PubMed search	n/a	n/a
Wikidata
View/Edit Human

Branched chain amino acid transaminase 1 is a protein that in humans is encoded by the BCAT1 gene.

Function

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.

Further reading

• Yoshikawa R, Yanagi H, Shen CS, Fujiwara Y, Noda M, Yagyu T, Gega M, Oshima T, Yamamura T, Okamura H, Nakano Y, Morinaga T, Hashimoto-Tamaoki T (2006). "ECA39 is a novel distant metastasis-related biomarker in colorectal cancer". World J. Gastroenterol. 12 (36): 5884–9. doi:10.3748/wjg.v12.i36.5884. PMC 4100673. PMID 17007058.

This article incorporates text from the United States National Library of Medicine, which is in the public domain.