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Genetics Home Reference: your guide to understanding genetic conditions
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Endogenous ligands gene family

Reviewed May 2013

What are the endogenous ligands genes?

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.

Which genes are included in the endogenous ligands gene family?

The HUGO Gene Nomenclature Committee (HGNC) provides an index of gene families (http://www.genenames.org/cgi-bin/genefamilies/) and their member genes.

Genetics Home Reference summarizes the normal function and health implications of these members of the endogenous ligands gene family: AGT, AMH, APP, AVP, BDNF, C3, EDN3, F2, FGA, FGB, FGG, FN1, GDF3, GH1, HTT, IL1A, NDP, NGF, POMC, PROC, PROK2, PSAP, RB1, SAA1, TGFB1, TGFB2, THPO, TSHB, VWF, WNT3, and WNT4.

What conditions are related to genes in the endogenous ligands gene family?

Genetics Home Reference includes these conditions related to genes in the endogenous ligands gene family:

  • age-related macular degeneration
  • Alzheimer disease
  • ankylosing spondylitis
  • atypical hemolytic-uremic syndrome
  • bladder cancer
  • Camurati-Engelmann disease
  • coloboma
  • congenital afibrinogenemia
  • congenital hypothyroidism
  • dense deposit disease
  • essential thrombocythemia
  • familial exudative vitreoretinopathy
  • familial Mediterranean fever
  • fibronectin glomerulopathy
  • hereditary cerebral amyloid angiopathy
  • hereditary sensory and autonomic neuropathy type V
  • Hirschsprung disease
  • Huntington disease
  • idiopathic inflammatory myopathy
  • isolated growth hormone deficiency
  • Kallmann syndrome
  • Klippel-Feil syndrome
  • Loeys-Dietz syndrome
  • metachromatic leukodystrophy
  • microphthalmia
  • Müllerian aplasia and hyperandrogenism
  • neurohypophyseal diabetes insipidus
  • Norrie disease
  • persistent Müllerian duct syndrome
  • proopiomelanocortin deficiency
  • protein C deficiency
  • prothrombin deficiency
  • prothrombin thrombophilia
  • renal tubular dysgenesis
  • retinoblastoma
  • tetra-amelia syndrome
  • von Willebrand disease
  • Waardenburg syndrome
  • Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome

What glossary definitions help with understanding the endogenous ligands gene family?

amyloid ; arginine ; cell ; coagulation ; coagulation factors ; differentiation ; fibrinogen ; gene ; growth factor ; growth hormone ; hormone ; ligand ; mediate ; precursor ; protein ; pseudoglioma ; receptor ; thrombin ; thyroid

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.

References

These sources were used to develop the Genetics Home Reference summary for the endogenous ligands gene family.

  • Molecular Cell Biology (fourth edition, 2000): Receptor Proteins Exhibit Ligand-Binding and Effector Specificity (http://www.ncbi.nlm.nih.gov/books/NBK21517/)
  • 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. (http://www.ncbi.nlm.nih.gov/pubmed/15251227?dopt=Abstract)
  • 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. (http://www.ncbi.nlm.nih.gov/pubmed/8001160?dopt=Abstract)
  • 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. (http://www.ncbi.nlm.nih.gov/pubmed/12569130?dopt=Abstract)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: May 2013
Published: June 29, 2015