PAFAH1B3 - platelet activating factor acetylhydrolase 1b catalytic subunit 3 Gene

中文名称：血小板活化因子乙酰水解酶 1b 催化亚基 3

种属: Homo sapiens

同用名: PAFAHG

关于 PAFAH1B3

功能概要

该基因编码乙酰水解酶，催化乙酰基从血小板活化因子的甘油主链上去除。编码的酶是血小板活化因子乙酰水解酶亚型 1B 复合物的一个亚基，它由催化性 β 和 γ 亚基以及调节性 α 亚基组成。这种复杂的功能在大脑发育中发挥作用。已经观察到 19 号染色体上的该基因与 1 号染色体上的 CDC 样激酶 2 基因之间的易位，并且与认知障碍、共济失调和大脑萎缩有关。已经描述了选择性剪接的转录物变体。[RefSeq 提供，2009 年 3 月]

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 cognitive disability, ataxia, and atrophy of the brain. Alternatively spliced transcript variants have been described. [provided by RefSeq, Mar 2009]