BCAT1
branched chain amino acid transaminase 1
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]
Known Variants34 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs117200620 | 12:24,970,966 | A/G | — | benign |
| rs756053143 | 12:24,970,981 | A/G | — | likely benign |
| rs7961152 | 12:24,981,611 | A/T | — | — |
| rs749915074 | 12:24,982,786 | G/A | — | uncertain significance |
| rs200930087 | 12:24,982,787 | G/T | — | uncertain significance |
| rs748955974 | 12:24,982,810 | C/T | — | uncertain significance |
| rs144632372 | 12:24,985,659 | C/T | — | likely benign |
| rs568168618 | 12:24,985,669 | C/T | — | likely benign |
| rs762733850 | 12:24,985,738 | C/T | — | likely benign |
| rs7313020 | 12:24,985,740 | C/T | missense variant | — |
| rs761486552 | 12:24,989,456 | C/T | — | uncertain significance |
| rs760168308 | 12:24,989,497 | A/T | — | uncertain significance |
| rs61914865 | 12:24,989,801 | A/T | — | — |
| rs371256913 | 12:24,995,041 | A/T | — | uncertain significance |
| rs556353032 | 12:24,995,153 | T/C | — | uncertain significance |
| rs201825281 | 12:25,002,738 | C/G | — | uncertain significance |
| rs200941618 | 12:25,002,847 | G/A | — | uncertain significance |
| rs760467109 | 12:25,031,481 | T/C | — | uncertain significance |
| rs144527883 | 12:25,031,537 | T/G | — | uncertain significance |
| rs2547857267 | 12:25,031,568 | C/T | — | uncertain significance |
| rs756636814 | 12:25,034,243 | T/C | — | uncertain significance |
| rs754236756 | 12:25,034,261 | G/A | — | uncertain significance |
| rs201619436 | 12:25,047,306 | T/G | — | uncertain significance |
| rs17374285 | 12:25,047,312 | G/A | — | likely benign |
| rs368501588 | 12:25,047,324 | T/C | — | uncertain significance |
| rs764598571 | 12:25,047,409 | C/T | — | uncertain significance |
| rs185686698 | 12:25,054,769 | T/C | — | likely benign |
| rs17374606 | 12:25,054,787 | A/G | — | benign |
| rs2291894 | 12:25,054,891 | G/A | — | benign |
| rs968430474 | 12:25,055,889 | C/T | — | uncertain significance |
| rs1943154692 | 12:25,055,894 | G/A | — | uncertain significance |
| rs2547929810 | 12:25,055,897 | G/A | — | uncertain significance |
| rs7972955 | 12:25,079,295 | G/T | — | — |
| rs72640140 | 12:25,092,798 | C/A | intron variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.