Biology:GPRC5B
 Generic protein structure example |
G-protein coupled receptor family C group 5 member B is a protein that in humans is encoded by the GPRC5B gene.[1][2][3]
Function
The protein encoded by this gene is a member of the type 3 G protein-coupled receptor family. Members of this superfamily are characterized by a signature 7-transmembrane domain motif. The specific function of this protein is unknown; however, this protein may mediate the cellular effects of retinoic acid on the G protein signal transduction cascade.[3]
Clinical significance
Dominant mutations in GPRC5B have been identified as an ultra-rare cause of the neurological white matter disease Megalencephalic Leukoencephalopathy with subcortical Cysts (MLC).[4] Affected individuals present with early-onset macrocephaly, mild motor developmental delay, slowly progressive ataxia, and characteristic brain MRI findings including diffuse white matter abnormalities and subcortical cysts. Disruption of GPRC5B impairs brain water homeostasis, leading to the clinical and radiological features of this leukodystrophy.
See also
References
- ↑ "Genome duplications and other features in 12 Mb of DNA sequence from human chromosome 16p and 16q". Genomics 60 (3): 295–308. September 1999. doi:10.1006/geno.1999.5927. PMID 10493829.
- ↑ "Sequence and expression pattern of a novel human orphan G-protein-coupled receptor, GPRC5B, a family C receptor with a short amino-terminal domain". Genomics 65 (2): 121–128. April 2000. doi:10.1006/geno.2000.6164. PMID 10783259.
- ↑ 3.0 3.1 "Entrez Gene: GPRC5B G protein-coupled receptor, family C, group 5, member B". https://www.ncbi.nlm.nih.gov/gene?Db=gene&Cmd=ShowDetailView&TermToSearch=51704.
- ↑ "Aquaporin-4 and GPRC5B: old and new players in controlling brain oedema". Brain 146 (8): 3444–3454. August 2023. doi:10.1093/brain/awad146. PMID 37143309.
Further reading
- "Molecular cloning and characterization of two novel retinoic acid-inducible orphan G-protein-coupled receptors (GPRC5B and GPRC5C)". Genomics 67 (1): 8–18. July 2000. doi:10.1006/geno.2000.6226. PMID 10945465.
External links
- "GPRC5 Receptors: RAIG2". IUPHAR Database of Receptors and Ion Channels. International Union of Basic and Clinical Pharmacology. http://www.iuphar-db.org/GPCR/ReceptorDisplayForward?receptorID=2960.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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