人 PAFAH1B3 (NM_001145939) cDNA克隆

Accession: NM_001145939
基因名称: PAFAH1B3
基因别名: PAFAHG
基因描述: Homo sapiens platelet-activating factor acetylhydrolase 1b, catalytic subunit 3 (29kDa) (PAFAH1B3), transcript variant 1, mRNA.
种属: Human
CDS区长度: 696 (查看编码区序列)
翻译后氨基酸长度: 231 (查看氨基酸序列)
Transcript Variant: This variant (1) represents the longest transcript. Variants 1, 2 and 3 encode the same protein.
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G108373 人 PAFAH1B3 (NM_001145939) cDNA克隆 pDONR223 2ug质粒 点击询价

This gene encodes an acetylhydrolase that catalyzes the removal of an acetyl group from the glycerol backbone of platelet-activating factor. The encoded enzyme is a subunit of the platelet-activating factor acetylhydrolase isoform 1B complex, which consists of the catalytic beta and gamma subunits and the regulatory alpha subunit. This complex functions in brain development. A translocation between this gene on chromosome 19 and the CDC-like kinase 2 gene on chromosome 1 has been observed, and was associated with mental retardation, ataxia, and atrophy of the brain. Alternatively spliced transcript variants have been described. [provided by RefSeq, Mar 2009]