人 BCAT1 (NM_001178091) cDNA克隆

基本信息

Accession: NM_001178091
基因名称: BCAT1
基因别名: BCT1; PP18; BCATC; ECA39; MECA39; PNAS121
基因描述: Homo sapiens branched chain amino-acid transaminase 1, cytosolic (BCAT1), transcript variant 2, mRNA.
种属: Human
CDS区长度: 1050 (查看编码区序列)
翻译后氨基酸长度: 349 (查看氨基酸序列)
Transcript Variant: 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.

订购信息

产品编号 产品名称 载体 规格 价格
G114800 人 BCAT1 (NM_001178091) cDNA克隆 pDONR223 2ug质粒 点击询价

载体信息

pDONR223载体图谱

相关转录本

人 BCAT1 (NM_005504) cDNA克隆 transcript variant 1
人 BCAT1 (NM_001178091) cDNA克隆 transcript variant 2
人 BCAT1 (NM_001178092) cDNA克隆 transcript variant 3
人 BCAT1 (NM_001178093) cDNA克隆 transcript variant 4
人 BCAT1 (NM_001178094) cDNA克隆 transcript variant 5

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]

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