InterPro domain: IPR039694
General Information
- Identifier IPR039694
- Description WD repeat-containing protein 11
- Number of genes 172
- Gene duplication stats Loading...
Abstract
WD repeat-containing protein 11 (WDR11) is part of the WDR11 complex (consisting of WDR11, C17orf75 and FAM91A) that facilitates the tethering of AP-1-derived vesicles [ 1 ]. Mutations of the WDR11 gene has been linked to congenital hypogonadotropic hypogonadism (CHH) and Kallmann syndrome (KS), human developmental genetic disorders defined by delayed puberty and infertility [ 2 ]. Homologues are known from animals and plants.
1. The WDR11 complex facilitates the tethering of AP-1-derived vesicles. Nat Commun 9, 596
2. WDR11-mediated Hedgehog signalling defects underlie a new ciliopathy related to Kallmann syndrome. EMBO Rep. 19, 269-289
Species distribution
Gene table
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