Tchem | Branched-chain-amino-acid aminotransferase, cytosolic |
Catalyzes the first reaction in the catabolism of the essential branched chain amino acids leucine, isoleucine, and valine.
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]
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]
Comments
Disease | Target Count | Z-score | Confidence |
---|---|---|---|
Cholestasis | 155 | 0.0 | 0.0 |
Weight Gain | 100 | 0.0 | 0.0 |
Disease | Target Count | Z-score | Confidence |
---|---|---|---|
Small intestine neuroendocrine neoplasm | 4 | 3.999 | 2.0 |
Serine deficiency | 9 | 3.418 | 1.7 |
Maple syrup urine disease | 24 | 3.253 | 1.6 |
Species | Source | Disease |
---|---|---|
Inparanoid OMA | ||
Inparanoid OMA | ||
Inparanoid OMA EggNOG | ||
OMA EggNOG | ||
Inparanoid OMA EggNOG | ||
Inparanoid OMA EggNOG | ||
Inparanoid OMA | ||
Inparanoid EggNOG | ||
Inparanoid OMA | ||
OMA EggNOG | ||
OMA EggNOG | ||
OMA EggNOG | ||
Inparanoid OMA EggNOG | ||
Inparanoid OMA EggNOG | ||
Inparanoid OMA |
MKDCSNGCSAECTGEGGSKEVVGTFKAKDLIVTPATILKEKPDPNNLVFGTVFTDHMLTVEWSSEFGWEK 1 - 70 PHIKPLQNLSLHPGSSALHYAVELFEGLKAFRGVDNKIRLFQPNLNMDRMYRSAVRATLPVFDKEELLEC 71 - 140 IQQLVKLDQEWVPYSTSASLYIRPTFIGTEPSLGVKKPTKALLFVLLSPVGPYFSSGTFNPVSLWANPKY 141 - 210 VRAWKGGTGDCKMGGNYGSSLFAQCEAVDNGCQQVLWLYGEDHQITEVGTMNLFLYWINEDGEEELATPP 211 - 280 LDGIILPGVTRRCILDLAHQWGEFKVSERYLTMDDLTTALEGNRVREMFGSGTACVVCPVSDILYKGETI 281 - 350 HIPTMENGPKLASRILSKLTDIQYGREESDWTIVLS 351 - 386 //