| ncRNA Symbol: | BCAT1 |
| Full Name: | branched chain amino acid transaminase 1 |
| Category: | mRNA |
| Synonyms: | BCATC|BCT1|ECA39|MECA39|PNAS121|PP18 |
| Chromosome: | chr12 |
| Strand: | - |
| Coordinate: | | Start Site(bp): | 24810022 | End Site(bp): | 24949459 | |
| Gene 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] |
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