CRYZ - crystallin zeta Gene

中文名称：晶状体 zeta

种属: Homo sapiens

关于 CRYZ

功能概要

晶状体蛋白分为两类：分类群特异性或酶类，以及普遍存在的。后一类构成脊椎动物眼睛晶状体的主要蛋白质，并维持晶状体的透明度和折射率。前一类也称为系统发育受限的晶状体蛋白。该基因编码一种分类单元特异性晶状体蛋白，该蛋白具有与其他已知醌还原酶不同的 NADPH 依赖性醌还原酶活性。它缺乏醇脱氢酶活性，但由于相似性，它被认为是含锌醇脱氢酶家族的成员。与其他哺乳动物不同，在人类中，晶状体表达较低。已发现该基因编码不同亚型的可变剪接转录物变体。已知存在一种假基因。[RefSeq 提供，2008 年 9 月]

Crystallins are separated into two classes: taxon-specific, or enzyme, and ubiquitous. The latter class constitutes the major proteins of vertebrate eye lens and maintains the transparency and refractive index of the lens. The former class is also called phylogenetically-restricted crystallins. This gene encodes a taxon-specific crystallin protein which has NADPH-dependent Quinone Reductase activity distinct from Other known quinone reductases. It lacks alcohol dehydrogenase activity although by similarity it is considered a member of the zinc-containing alcohol dehydrogenase family. Unlike Other mammalian species, in humans, lens expression is low. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. One pseudogene is known to exist. [provided by RefSeq, Sep 2008]