GOAL
Overview[edit | edit source]
GNAQ is a gene that encodes the guanine nucleotide-binding protein G(q) subunit alpha, which is a member of the G protein family. G proteins are involved in transmitting chemical signals from outside the cell to the inside, and they play a crucial role in various cellular processes. The GNAQ gene is located on chromosome 9q21.
Structure[edit | edit source]
The GNAQ gene encodes a protein that is part of the Gq class of G proteins. These proteins are heterotrimeric, consisting of alpha, beta, and gamma subunits. The alpha subunit, encoded by GNAQ, is responsible for binding and hydrolyzing GTP, which is essential for the activation and inactivation of the G protein.
Function[edit | edit source]
GNAQ is involved in the signaling pathways that regulate a variety of physiological processes, including:
- Cell proliferation: GNAQ plays a role in the regulation of cell growth and division.
- Vascular development: It is involved in the development and maintenance of blood vessels.
- Neurotransmission: GNAQ is important in the signaling pathways of neurotransmitters in the brain.
Clinical Significance[edit | edit source]
Mutations in the GNAQ gene have been associated with several diseases, including:
- Sturge-Weber syndrome: A rare disorder characterized by a port-wine stain on the face, neurological abnormalities, and glaucoma. Somatic mutations in GNAQ are implicated in this condition.
- Uveal melanoma: A type of cancer that occurs in the eye. Mutations in GNAQ are found in a significant number of uveal melanoma cases.
- Capillary malformations: GNAQ mutations can lead to abnormal blood vessel development, resulting in capillary malformations.
Research[edit | edit source]
Ongoing research is focused on understanding the role of GNAQ in various signaling pathways and its implications in disease. Targeting GNAQ and its downstream pathways is being explored as a potential therapeutic strategy for conditions like uveal melanoma.
Also see[edit | edit source]
References[edit | edit source]
External links[edit | edit source]
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Contributors: Prab R. Tumpati, MD
