Proto-oncogene Wnt-1

Definition

Ligand for members of the frizzled family of seven transmembrane receptors (Probable). Acts in the canonical Wnt signaling pathway by promoting beta-catenin-dependent transcriptional activation. In some developmental processes, is also a ligand for the coreceptor RYK, thus triggering Wnt signaling (By similarity). Plays an essential role in the development of the embryonic brain and central nervous system (CNS) (By similarity). Has a role in osteoblast function, bone development and bone homeostasis.

References:

[1]. Katharina Keupp, et al. Mutations in WNT1 cause different forms of bone fragility. Am J Hum Genet. 2013 Apr 4;92(4):565-74. [Content Brief]

[2]. Christine M Laine, et al. WNT1 mutations in early-onset osteoporosis and osteogenesis imperfecta. N Engl J Med. 2013 May 9;368(19):1809-16. [Content Brief]

[3]. Emiko Mihara, et al. Active and water-soluble form of lipidated Wnt protein is maintained by a serum glycoprotein afamin/α-albumin. Elife. 2016 Feb 23;5:e11621. [Content Brief]

[4]. Joon Yeon Won, et al. Novel missense loss-of-function mutations of WNT1 in an autosomal recessive Osteogenesis imperfecta patient. Eur J Med Genet. 2017 Aug;60(8):411-415. [Content Brief]

生物医学辞典

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