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人ABAT(NM_020686)ORF克隆
人ABAT(NM_020686)ORF克隆
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  • 商品货号:F104732
  • accession:NM_020686
  • 基因别名:ABAT
  • 基因描述:Homo sapiens 4-aminobutyrate aminotransferase (ABAT), transcript variant 1, mRNA.
  • 载体: 现货载体
  • CDS区长度:1503
  • 翻译后氨基酸长度:500
  • TranscriptVariant:This variant (1) has a more distal alternate 5' UTR. Variants 1-3 encode the same protein.
  • 基因简介:4-aminobutyrate aminotransferase (ABAT) is responsible for catabolism of gamma-aminobutyric acid (GABA), an important, mostly inhibitory neurotransmitter in the central nervous system, into succinic semialdehyde. The active enzyme is a homodimer of 50-kD subunits complexed to pyridoxal-5-phosphate. The protein sequence is over 95% similar to the pig protein. GABA is estimated to be present in nearly one-third of human synapses. ABAT in liver and brain is controlled by 2 codominant alleles with a frequency in a Caucasian population of 0.56 and 0.44. The ABAT deficiency phenotype includes psychomotor retardation, hypotonia, hyperreflexia, lethargy, refractory seizures, and EEG abnormalities. Multiple alternatively spliced transcript variants encoding the same protein isoform have been found for this gene. [provided by RefSeq, Jul 2008]
  • 载体信息:自有图片地址
  • 规格:10ul 质粒
CDS区参考序列: 点击查看序列
翻译后氨基酸参数序列: 点击查看序列