Mutant alleles at the BCHE locus are responsible for suxamethonium sensitivity. Homozygous persons sustain prolonged apnea after administration of the muscle relaxant suxamethonium in connection with surgical anesthesia. The activity of pseudocholinesterase in the serum is low and its substrate behavior is atypical. In the absence of the relaxant, the homozygote is at no known disadvantage. [provided by RefSeq, Jul 2008].

This gene encodes a member of the parathyroid family of proteins. The encoded preproprotein is proteolytically processed to generate a protein that binds to the parathyroid hormone/parathyroid hormone-related peptide receptor and regulates blood calcium and phosphate levels. Excess production of the encoded protein, known as hyperparathyroidism, can result in hypercalcemia and kidney stones. On the other hand, defective processing of the encoded protein may lead to hypoparathyroidism, which

This gene encodes a glycoprotein involved in the regulation of the complement cascade. Binding of the encoded protein to complement proteins accelerates their decay, thereby disrupting the cascade and preventing damage to host cells. Antigens present on this protein constitute the Cromer blood group system (CROM). Alternative splicing results in multiple transcript variants. The predominant transcript variant encodes a membrane-bound protein, but alternatively spliced transcripts may produce s

The Peroxiredoxin (Prdx, Prx, or Trx-Px) family of enzymes is a recently identified family of peroxidases found in free-living organisms. The six known isoforms (Prx1-6) play an important role in protecting lipids, enzymes and DNA against peroxides, such as hydrogen peroxide. The ubiquitously expressed peroxiredoxins have also been shown to play a role in apoptosis and cell differentiation. This is acomplished by the active cysteine of Prx reducing peroxides, which is then converted into a tr

CYP3A proteins are P450 monooxygenases and in animals, P450 enzymes serve two major functions: biosynthesis of steroids, fatty acids and bile acids, and the metabolism of endogenous and exogenous substrates. A wide variety of exogenous substrates are metabolized by P450 enzymes, including toxins and drugs. The four major families involved in drug metabolism are CYP1, 2, 3 and 4. The hepatic CYP3A1 protein is detected throughout ciliated and nonciliated cells in seven-day-old rats, and i

Retinol binding protein 4, also known as RBP4, is a transporter protein for retinol (vitamin A alcohol). RBP4 has a molecular weight of approximately 21 kDa and is encoded by the RBP4 gene in humans. It is mainly, though not exclusively, synthesized in the liver and circulates in the bloodstream bound to retinol in a complex with transthyretin. RBP4 has been a drug target for ophthalmology research due to its role in vision. RBP4 may also be involved in metabolic diseases as suggested by rece