WDR11
Function
Involved in the Hedgehog (Hh) signaling pathway, is essential for normal ciliogenesis (PubMed:29263200). Regulates the proteolytic processing of GLI3 and cooperates with the transcription factor EMX1 in the induction of downstream Hh pathway gene expression and gonadotropin-releasing hormone production (PubMed:29263200). WDR11 complex facilitates the tethering of Adaptor protein-1 complex (AP-1)-derived vesicles. WDR11 complex acts together with TBC1D23 to facilitate the golgin-mediated capture of vesicles generated using AP-1 (PubMed:29426865).
Involvement in disease
A chromosomal aberration involving WDR11 is found in a form of glioblastoma. Translocation t(10;19)(q26;q13.3) with ZNF320.
A chromosomal aberration involving WDR11 is found in a form of Kallmann syndrome. Translocation 46,XY,t(10;12)(q26.12;q13.11).
Hypogonadotropic hypogonadism 14 with or without anosmia
HH14
A disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. In some cases, it is associated with non-reproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss. Anosmia or hyposmia is related to the absence or hypoplasia of the olfactory bulbs and tracts. Hypogonadism is due to deficiency in gonadotropin-releasing hormone and probably results from a failure of embryonic migration of gonadotropin-releasing hormone-synthesizing neurons. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism is referred to as Kallmann syndrome, whereas in the presence of a normal sense of smell, it has been termed normosmic idiopathic hypogonadotropic hypogonadism (nIHH).
None
The disease is caused by variants affecting the gene represented in this entry.
Intellectual developmental disorder, autosomal recessive 78
MRT78
An autosomal recessive neurodevelopmental disorder characterized by usually mild intellectual disability, microcephaly, and short stature. Additional features may include ocular abnormalities and mild skeletal defects.
None
The disease is caused by variants affecting the gene represented in this entry.
Tissue Specificity
Ubiquitous.
Cellular localization
- Cytoplasm
- Cytoskeleton
- Cilium basal body
- Cytoplasm
- Nucleus
- Cytoplasm
- Cytoskeleton
- Cilium axoneme
- Cytoplasmic vesicle
- Golgi apparatus
- trans-Golgi network
- Shuttles from the cilium to the nucleus in response to Hh signaling (PubMed:29263200). Might be shuttling between the nucleus and the cytoplasm (PubMed:20887964).
Alternative names
BRWD2, KIAA1351, WDR15, WDR11, WD repeat-containing protein 11, Bromodomain and WD repeat-containing protein 2, WD repeat-containing protein 15