Endogenous ligands
Genes in this family provide instructions for making specialized proteins called endogenous ligands. A ligand is a protein that attaches (binds) to another protein called a receptor; receptor proteins have specific sites into which the ligands fit like keys into locks. Endogenous ligands are those that are produced in the body, not those introduced into the body, such as certain drugs.
Together, ligands and their receptors trigger signals that affect cell development and function. Alterations in ligands can impair cell signaling and change the normal activities of cells. Because ligands mediate many different functions in the body, mutations in genes in the endogenous ligands gene family can have a variety of effects.
Examples of genes in this gene family: AMH, APP, AVP, BDNF, EDN3, FN1, GDF3, GH1, HTT, PROK2, PSAP, RB1, TGFB1, TGFB2, TSHB, VWF, WNT3.
The HUGO Gene Nomenclature Committee (HGNC) provides an index of gene families and their member genes.
References
- Barrow JR, Thomas KR, Boussadia-Zahui O, Moore R, Kemler R, Capecchi MR, McMahon AP. Ectodermal Wnt3/beta-catenin signaling is required for the establishment and maintenance of the apical ectodermal ridge. Genes Dev. 2003 Feb 1;17(3):394-409. PubMed: 12569130. Free full-text available from PubMed Central: PMC195987.
- Baynash AG, Hosoda K, Giaid A, Richardson JA, Emoto N, Hammer RE, Yanagisawa M. Interaction of endothelin-3 with endothelin-B receptor is essential for development of epidermal melanocytes and enteric neurons. Cell. 1994 Dec 30;79(7):1277-85. PubMed: 8001160.
- Kristiansen K. Molecular mechanisms of ligand binding, signaling, and regulation within the superfamily of G-protein-coupled receptors: molecular modeling and mutagenesis approaches to receptor structure and function. Pharmacol Ther. 2004 Jul;103(1):21-80. Review. PubMed: 15251227.
Sources
- Genetics Home Reference. U.S. National Library of Medicine.
