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More than 30 loci (SPG1-33) have been implicated in hereditary spastic paraplegia diseases

The lack of RFX binding activity in complementation group C results from mutations in the RFX5 gene encoding the 75-kD subunit of RFX (Steimle et al

The primary sequences of the three human mitochondrial S18 proteins are no more closely related to each other than they are to the prokaryotic S18 proteins

Activating mutations in this gene are a common cause of congenital hyperinsulinism

CD56 Polyclonal Antibody, 100ul[BT-AP02415] Immunoassays Perfect for those who areCYP2U1 encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This enzyme is a hydroxylase that metabolizes arachidonic acid, docosahexaenoic acid, and other long chain fatty acids.