WDR11

Description

The WDR11 (WD repeat domain 11) is a protein-coding gene located on chromosome 10.

WDR11, also known as Bromodomain and WD repeat-containing protein 2 (BRWD2), is a protein encoded by the WDR11 gene. It belongs to the WD repeat protein family, which are involved in various cellular processes like cell cycle progression, signal transduction, apoptosis, and gene regulation. WDR11 forms a trimer with FAM91A1 and C17orf75, which promotes the Golgi's capture of vesicles. The WDR11 gene is located in a region frequently deleted in gliomas and other tumors, and it is disrupted by a translocation rearrangement in glioblastoma cells, suggesting it may be a tumor suppressor gene.

WDR11 plays a crucial role in the Hedgehog (Hh) signaling pathway, essential for normal ciliogenesis. It regulates the processing of GLI3 and collaborates with EMX1 to activate downstream Hh pathway genes, leading to gonadotropin-releasing hormone production. WDR11 forms a complex that anchors AP-1-derived vesicles, and it works with TBC1D23 to capture vesicles via golgins.

WDR11 is also known as BRWD2, DR11, HH14, SRI1, WDR15.

Associated Diseases

• Hypogonadotropic hypogonadism 7 without anosmia
• Pituitary stalk interruption syndrome
• Intellectual developmental disorder, autosomal recessive 78
• Normosmic congenital hypogonadotropic hypogonadism
• Kallmann syndrome
• Hypogonadotropic hypogonadism 14 with or without anosmia