Aliases for WDR19 Gene
External Ids for WDR19 Gene
Previous GeneCards Identifiers for WDR19 Gene
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]
GeneCards Summary for WDR19 Gene
WDR19 (WD Repeat Domain 19) is a Protein Coding gene. Diseases associated with WDR19 include Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly and Cranioectodermal Dysplasia 4. Among its related pathways are Signaling by Hedgehog and Signaling by GPCR.
UniProtKB/Swiss-Prot for WDR19 Gene
Component of the IFT complex A (IFT-A), a complex required for retrograde ciliary transport (PubMed:20889716). Involved in cilia function and/or assembly (By similarity). Associates with the BBSome complex to mediate ciliary transport (By similarity).