WDR19

The protein encoded by this gene is a member of the WD (tryptophan-aspartic acid) repeat family, which is a large family of structurally-related proteins known to participate in a wide range of cellular processes. Each WD repeat typically contains about 40 amino acids that are usually bracketed by glycine-histidine and tryptophan-aspartic acid (WD) dipeptides. This protein contains six WD repeats, three transmembrane domains, and a clathrin heavy-chain repeat. Mutations in this gene have been described in individuals with a wide range of disorders affecting function of the cilium. These disorders are known as ciliopathies, and include Jeune syndrome, Sensenbrenner syndromes, Senior-Loken syndrome, combined or isolated nephronophthisis (NPHP), and retinitis pigmentosa (RP). Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]

本基因编码的蛋白质属于WD（色氨酸-天冬氨酸）重复家族，该家族是一大家族的结构相关蛋白，已知参与多种细胞过程。每个WD重复通常包含约40个氨基酸，这些氨基酸通常由甘氨酸-组氨酸和色氨酸-天冬氨酸（WD）二肽所包围。该蛋白含有六个WD重复、三个跨膜结构域和一个网格蛋白重链重复。该基因的突变已被描述为影响纤毛功能的多种疾病患者的特征。这些疾病被称为纤毛病，包括Jeune综合征、Sensenbrenner综合征、Senior-Loken综合征、联合或孤立性肾小管硬化症（NPHP）和色素性视网膜炎（RP）。选择性剪接导致多种转录本变体，编码不同的同型异构体。[由RefSeq提供，2015年12月]