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Defects in COX10 are a cause of mitochondrial complex IV deficiency (MT-C4D) [MIM:220110]; also known as cytochrome c oxidase deficiency. A disorder of the...
BRCA 2 is localized to chromosome 13q12 - q13. Loss of heterozygosity of 13q is observed in 25% of sporadic breast tumors, which indicates that BRCA 2 might...
Peropsin is a visual pigment-like protein identified following large-scale sequencing of cDNAs derived from human ocular tissues. Peropsin mRNA is found in...
Three types of opioid receptors have been cloned: mu, delta, and kappa. Opioid receptors are seven transmembrane G-protein coupled receptors. They share a...
Opioid is the term used to designate a group of compounds that are opium-like in their properties. These drugs have effects on perception of pain,...
GPCR GPR136, also known as Opsin 5, is a member of the guanine nucleotide-binding protein (G protein)-coupled receptor superfamily. This gene belongs to the...
Melanopsin is an opsin-like protein found in the retinal ganglion cells of mammals. Melanopsin is believed to be part of a secondary optical system that...
Opsins, including Encephalopsin, are members of the superfamily of guanine nucleotide-binding protein (G protein)-coupled receptors, which function through...
Voltage-dependent calcium channels are essential for the release of neurotransmitters. Cacna2d1 (calcium channel, voltage-dependent, alpha2/delta subunit 1),...
Dental enamel is a highly mineralized tissue with most of its volume occupied by large, highly organized, hydroxyapatite crystals. This structure is thought...
VEGF is a dimeric glycoprotein with structural homology to PDGF. Several variants of VEGF have been described that arise by alternative mRNA splicing. It has...
Myostatin (GDF8) is expressed uniquely in human skeletal muscle as a 12 kDa mature glycoprotein consisting of 113 amino acid residues and secreted into...
The nicotinic acetylcholine receptor (nAChR) is a ligand gated ion channel that mediates neurotransmission at the neuromuscular junction, autonomic ganglia...
Nicotinic acetylcholine receptors(AChRs) are found at the postsynaptic membrane of the neuromuscular junctionand bind acetylcholine molecules, allowing ions...
UCP1 forms a dimer that acts as a proton channel, which can uncouple oxidative phosphorylation by dissipating the electrochemical potential across the inner...
Semaphorins are a family of cell surface and secreted proteins that are conserved from insects to humans. Members of this family of proteins are...
In aerobic respiration reactions, succinate dehydrogenase (SDH) catalyzes the oxidation of succinate and ubiquinone to fumarate and ubiquinol. Four subunits...
Prostaglandin E synthase (PGE synthase), also known as PIG12 and MGST1-L1, is a member of protein super family MAPEG, which consists of membrane associated...
CLN1 (ceroid lipofuscinosis 1), also known as PPT, INCL or PPT1 (palmitoylprotein thioesterase 1), is a 306 amino acid glycosylated protein that localizesto...
Pigment epithelium derived factor, originally identified in conditioned medium of cultured human fetal retinal pigment epithelial (RPE) cells, is a...
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