WNT1
Description
The WNT1 (Wnt family member 1) is a protein-coding gene located on chromosome 12.
The WNT1 gene encodes a protein that is a member of the WNT gene family, which consists of structurally related genes that encode secreted signaling proteins. WNT1 is highly conserved in evolution, with its protein being 98% identical to the mouse Wnt1 protein at the amino acid level. Studies in mice indicate that the Wnt1 protein functions in the induction of the mesencephalon and cerebellum. While WNT1 was initially considered a candidate gene for Joubert syndrome, further studies suggested that gene mutations may not play a significant role in the disorder. WNT1 is clustered with another family member, WNT10B, in the chromosome 12q13 region.
WNT1 is a ligand for members of the frizzled family of seven transmembrane receptors. It acts in the canonical Wnt signaling pathway by promoting beta-catenin-dependent transcriptional activation. In some developmental processes, WNT1 is also a ligand for the coreceptor RYK, thus triggering Wnt signaling. WNT1 plays an essential role in the development of the embryonic brain and central nervous system. It also has a role in osteoblast function, bone development and bone homeostasis.
WNT1 is also known as BMND16, INT1, OI15.
