|http://ghr.nlm.nih.gov/ A service of the U.S. National Library of Medicine®|
The official name of this gene is “guanine nucleotide binding protein (G protein), q polypeptide.”
GNAQ is the gene's official symbol. The GNAQ gene is also known by other names, listed below.
This locus encodes a guanine nucleotide-binding protein. The encoded protein, an alpha subunit in the Gq class, couples a seven-transmembrane domain receptor to activation of phospolipase C-beta. Mutations at this locus have been associated with problems in platelet activation and aggregation. A related pseudogene exists on chromosome 2.[provided by RefSeq, Nov 2010]
Guanine nucleotide-binding proteins (G proteins) are involved as modulators or transducers in various transmembrane signaling systems. Regulates B-cell selection and survival and is required to prevent B-cell-dependent autoimmunity. Regulates chemotaxis of BM-derived neutrophils and dendritic cells (in vitro).
Capillary malformations, congenital (CMC): A form of vascular malformations that are present from birth, tend to grow with the individual, do not regress spontaneously, and show normal rates of endothelial cell turnover. Capillary malformations are distinct from capillary hemangiomas, which are highly proliferative lesions that appear shortly after birth and show rapid growth, slow involution, and endothelial hypercellularity. The disease is caused by mutations affecting the gene represented in this entry.
Sturge-Weber syndrome (SWS): A syndrome characterized by an intracranial vascular anomaly, leptomeningeal angiomatosis, most often involving the occipital and posterior parietal lobes. The most common features are facial cutaneous vascular malformations (port-wine stains), seizures, and glaucoma. Stasis results in ischemia underlying the leptomeningeal angiomatosis, leading to calcification and laminar cortical necrosis. The clinical course is highly variable and some children experience intractable seizures, mental retardation, and recurrent stroke-like episodes. The disease is caused by mutations affecting the gene represented in this entry.
|163000 (http://omim.org/entry/163000)||CAPILLARY MALFORMATIONS, CONGENITAL|
|185300 (http://omim.org/entry/185300)||STURGE-WEBER SYNDROME|
|600998 (http://omim.org/entry/600998)||GUANINE NUCLEOTIDE-BINDING PROTEIN, Q POLYPEPTIDE|
Cytogenetic Location: 9q21
Molecular Location on chromosome 9: base pairs 77,716,273 to 78,031,448
The GNAQ gene is located on the long (q) arm of chromosome 9 at position 21.
More precisely, the GNAQ gene is located from base pair 77,716,273 to base pair 78,031,448 on chromosome 9.
See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.
You and your healthcare professional may find the following resources about GNAQ helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
autoimmunity ; calcification ; cell ; chromosome ; class ; congenital ; cutaneous ; domain ; gene ; glaucoma ; guanine ; hypercellularity ; in vitro ; ischemia ; locus ; mental retardation ; necrosis ; neutrophils ; nucleotide ; posterior ; protein ; pseudogene ; receptor ; regress ; subunit ; syndrome ; transmembrane ; vascular
You may find definitions for these and many other terms in the Genetics Home Reference Glossary (/glossary).
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.