Protein Name WD repeat domain 19
Organism Homo sapiens
Gene ID 57728
Gene Symbol

WDR19

UniProt Q8NEZ3 (WDR19_HUMAN), B4DGR6 (B4DGR6_HUMAN)
Relationships Total Number of functionally related compound(s) : 5
Total Number of Articles : 5
Description

WD repeat domain 19

Gene 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]

synonyms
  • WD repeat-containing protein 19
  • WD repeat membrane protein PWDMP
  • intraflagellar transport 144 homolog
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Properties