QuickView for BCAT1 (gene)

Gene Symbol:

BCAT1 Homo sapiens

Full name:

branched chain amino acid transaminase 1

Synonyms:

BCATC, BCT1, ECA39, MECA39, PNAS121, PP18, branched-chain-amino-acid aminotransferase, cytosolic, branched chain amino-acid transaminase 1, cytosolic, branched chain aminotransferase 1, cytosolic, placental protein 18

Genomic Location:

Chr 12: 24855545-24993499

Description:

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: hy...

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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.

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Orthologs:

Mus musculus ,  Rattus norvegicus ,  D. melanogaster ,  Saccharomyces cerevisiae ,  Macaca mulatta ,  Danio rerio ,  Gallus gallus ,  Pan troglodytes ,  Canis lupus familiaris ,  Bos taurus

External Links:

Entrez Gene

Transcription Factor
Binding Sites:

AGCATTA_MIR155 ,  GTGCCTT_MIR506

miRNA binding sites
(Source: TargetScan):

Predicted Gene Targets for miR-124a ,  Predicted Gene Targets for miR-155

Cytogenetic Map:

12p12.1

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