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BCAT1 branched chain amino acid transaminase 1

Gene ID: 586, updated on 12-Sep-2024
Gene type: protein coding
Also known as: BCT1; PP18; BCATC; ECA39; MECA39; PNAS121

Summary

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]

Associated conditions

See all available tests in GTR for this gene

DescriptionTests
Genome-wide association analyses suggest NELL1 influences adverse metabolic response to HCTZ in African Americans.
GeneReviews: Not available
Genome-wide association of lipid-lowering response to statins in combined study populations.
GeneReviews: Not available

Genomic context

Location:
12p12.1
Sequence:
Chromosome: 12; NC_000012.12 (24810024..24949340, complement)
Total number of exons:
17

Links

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