P4HA1 - prolyl 4-hydroxylase subunit alpha 1 Gene

中文名称：脯氨酰 4-羟化酶亚基 α 1

种属: Homo sapiens

同用名: P4HA

关于 P4HA1

功能概要

该基因编码脯氨酰 4-羟化酶的一个成分，脯氨酰 4-羟化酶是胶原蛋白合成中的一种关键酶，由两个相同的 α 亚基和两个 β 亚基组成。编码的蛋白质是几种不同类型的 alpha 亚基之一，并提供活性酶催化位点的主要部分。在胶原蛋白和相关蛋白质中，脯氨酰 4-羟化酶催化 4-羟脯氨酸的形成，这对于新合成的前胶原链的正确三维折叠至关重要。已经描述了编码不同亚型的选择性剪接转录物变体。[RefSeq 提供，2008 年 7 月]

This gene encodes a component of prolyl 4-hydroxylase, a key Enzyme in collagen synthesis composed of two identical alpha subunits and two beta subunits. The encoded protein is one of several different types of alpha subunits and provides the major part of the catalytic site of the active Enzyme. In collagen and related proteins, prolyl 4-hydroxylase catalyzes the formation of 4-hydroxyproline that is essential to the proper three-dimensional folding of newly synthesized procollagen chains. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]