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.[7]
Dominant mutations inGPRC5B have been identified as an ultra-rare cause of the neurological white matter disease Megalencephalic Leukoencephalopathy with subcortical Cysts (MLC).[8] 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.
^"Human PubMed Reference:".National Center for Biotechnology Information, U.S. National Library of Medicine.
^"Mouse PubMed Reference:".National Center for Biotechnology Information, U.S. National Library of Medicine.
^Loftus BJ, Kim UJ, Sneddon VP, Kalush F, Brandon R, Fuhrmann J, et al. (September 1999). "Genome duplications and other features in 12 Mb of DNA sequence from human chromosome 16p and 16q".Genomics.60 (3):295–308.doi:10.1006/geno.1999.5927.PMID10493829.
^Bräuner-Osborne H, Krogsgaard-Larsen P (April 2000). "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.doi:10.1006/geno.2000.6164.PMID10783259.
Robbins MJ, Michalovich D, Hill J, Calver AR, Medhurst AD, Gloger I, et al. (July 2000). "Molecular cloning and characterization of two novel retinoic acid-inducible orphan G-protein-coupled receptors (GPRC5B and GPRC5C)".Genomics.67 (1):8–18.doi:10.1006/geno.2000.6226.PMID10945465.
"GPRC5 Receptors: RAIG2".IUPHAR Database of Receptors and Ion Channels. International Union of Basic and Clinical Pharmacology. Archived fromthe original on 2014-08-08. Retrieved2008-12-04.
