- accession:NM_001178091
- 基因别名:BCAT1
- 基因描述:Homo sapiens branched chain amino-acid transaminase 1, cytosolic (BCAT1), transcript variant 2, mRNA.
- 载体:现货载体
- CDS区长度:1050
- 翻译后氨基酸长度:349
- TranscriptVariant:This variant (2) lacks an in-frame exon in the 5' coding region, compared to variant 1. This results in a shorter protein (isoform 2), compared to isoform 1.
- 基因简介: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]
- 规格:10ul 质粒
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