Gene Symbol | WDR19 |
Entrez Gene ID | 57728 |
Full Name | WD repeat domain 19 |
Synonyms | ATD5,CED4,DYF-2,IFT144,NPHP13,ORF26,Oseg6,PWDMP,SRTD5 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Nephronophthisis 13, 614377 (3); ?Cranioectodermal dysplasia 4, 614378 (3); ?Short-rib thoracic dysplasia 5 with or without polydactyly, 614376 (3); Senior-Loken syndrome 8, 616307 (3) |