人 PAFAH1B1 (NM_000430) cDNA克隆

Accession: NM_000430
基因名称: PAFAH1B1
基因别名: MDS; LIS1; LIS2; MDCR; PAFAH
基因描述: Homo sapiens platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa) (PAFAH1B1), mRNA.
种属: Human
CDS区长度: 1233 (查看编码区序列)
翻译后氨基酸长度: 410 (查看氨基酸序列)
产品编号 产品名称 载体 规格 价格
G153586 人 PAFAH1B1 (NM_000430) cDNA克隆 pDONR223 2ug质粒 点击询价

This locus was identified as encoding a gene that when mutated or lost caused the lissencephaly associated with Miller-Dieker lissencephaly syndrome. This gene encodes the non-catalytic alpha subunit of the intracellular Ib isoform of platelet-activating factor acteylhydrolase, a heterotrimeric enzyme that specifically catalyzes the removal of the acetyl group at the SN-2 position of platelet-activating factor (identified as 1-O-alkyl-2-acetyl-sn-glyceryl-3-phosphorylcholine). Two other isoforms of intracellular platelet-activating factor acetylhydrolase exist: one composed of multiple subunits, the other, a single subunit. In addition, a single-subunit isoform of this enzyme is found in serum. [provided by RefSeq, Apr 2009]