WDR11 ist ein Gen, das durch das Symbol WDR11 kodiert wird. Es ist auch bekannt als: WD repeat-containing protein 11; Bromodomain and WD repeat-containing protein 2; WD repeat-containing protein 15; BRWD2; KIAA1351; WDR15. WDR11 hat eine Masse von 136.69kDa, eine Aminosäurelänge von 1224, und ist an Hypogonadotropic hypogonadism 14 with or without anosmia beteiligt.
Wir bieten 2 antikörper gegen WDR11, aufgewachsen in Kaninchen, welche geeignet sind für WB and IHC mit Proben abgeleitet von Human.
Gen- und Proteininformationen
UniProt Zusammenfassung
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).
Entrez Zusammenfassung
This gene encodes a member of the WD repeat protein family. WD repeats are minimally conserved regions of approximately 40 amino acids typically bracketed by gly-his and trp-asp (GH-WD), which may facilitate formation of heterotrimeric or multiprotein complexes. Members of this family are involved in a variety of cellular processes, including cell cycle progression, signal transduction, apoptosis, and gene regulation. This gene is located in the chromosome 10q25-26 region, which is frequently deleted in gliomas and tumors of other tissues, and is disrupted by the t(10;19) translocation rearrangement in glioblastoma cells. The gene location suggests that it is a candidate gene for the tumor suppressor locus.
Gewebespezifität
Ubiquitous.
Rolle bei Krankheiten
Hypogonadotropic hypogonadism 14 with or without anosmia: 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).
Zellort
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).
