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Product CategoryGPRC5B (G protein-coupled receptor family C group 5 member B, retinoic acid-induced gene 2 protein) is a 403 amino acid protein encoded by the human GPRC5B gene. GPRC5B is an orphan receptor member of the G protein-coupled receptor 3 family. G protein-coupled receptors (GPCRs or GPRs) contain 7 transmembrane domains and transduce extracellular signals through heterotrimeric G proteins. Key roles for G protein-coupled receptors include control of protein maturation and cell surface delivery, a
This gene encodes a mitochondrially localized enzyme that catalyzes the reversible formation of acetoacetyl-CoA from two molecules of acetyl-CoA. Defects in this gene are associated with 3-ketothiolase deficiency, an inborn error of isoleucine catabolism characterized by urinary excretion of 2-methyl-3-hydroxybutyric acid, 2-methylacetoacetic acid, tiglylglycine, and butanone. [provided by RefSeq, Feb 2009].
NDUFA1 (NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1) is an essential component of the multisubunit NADH ubiquinone oxidoreductase (complex 1), the first enzyme complex in the mitochondrial respiratory chain. Complex I transfers electrons from NADH to the respiratory chain via ubiquinone.