Structural highlights
Disease
WDR19_HUMAN Jeune syndrome;Senior-Loken syndrome;Juvenile nephronophthisis;Cranioectodermal dysplasia. The disease is caused by variants affecting the gene represented in this entry. The disease is caused by variants affecting the gene represented in this entry. The disease is caused by variants affecting the gene represented in this entry. The disease is caused by variants affecting the gene represented in this entry.
Function
WDR19_HUMAN As component of the IFT complex A (IFT-A), a complex required for retrograde ciliary transport and entry into cilia of G protein-coupled receptors (GPCRs), it is involved in cilia function and/or assembly (PubMed:20889716). Essential for functional IFT-A assembly and ciliary entry of GPCRs (PubMed:20889716). Associates with the BBSome complex to mediate ciliary transport (By similarity).[UniProtKB:Q3UGF1][1]
References
- ↑ Mukhopadhyay S, Wen X, Chih B, Nelson CD, Lane WS, Scales SJ, Jackson PK. TULP3 bridges the IFT-A complex and membrane phosphoinositides to promote trafficking of G protein-coupled receptors into primary cilia. Genes Dev. 2010 Oct 1;24(19):2180-93. doi: 10.1101/gad.1966210. PMID:20889716 doi:http://dx.doi.org/10.1101/gad.1966210
