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The protein encoded by this gene is a bifunctional enzyme that catalyzes the oxidative conversion of delta(5)-ene-3-beta-hydroxy steroid, and the oxidative conversion of ketosteroids. It plays a crucial role in the biosynthesis of all classes of hormonal steroids. This gene is predominantly expressed in the adrenals and the gonads. Mutations in this gene are associated with 3-beta-hydroxysteroid dehydrogenase, type II, deficiency. Alternatively spliced transcript variants have been found for

Nucleotide excision repair of DNA lesions occurs more rapidly and at a higher frequency on the template, or the transcribed, strand of DNA and to a much lesser extent on the coding, or the non-transcribed, strand or on transcriptionally inactive DNA. CSA and CSB are two related genes that are responsible for directing this preferential DNA repair pattern, known as transcriptional-repair coupling. Cells from patients with the UV-sensitive nucleotide excision repair disorder Cockayne's syndro

Alpha2-HS glycoprotein (AHSG), a glycoprotein present in the serum, is synthesized by hepatocytes. The AHSG molecule consists of two polypeptide chains, which are both cleaved from a proprotein encoded from a single mRNA. It is involved in several functions, such as endocytosis, brain development and the formation of bone tissue. The protein is commonly present in the cortical plate of the immature cerebral cortex and bone marrow hemopoietic matrix, and it has therefore been postulated that

The MHC class I chain-related (MIC) proteins are related to the Major histocompatibility complex (MHC) class I proteins which are ubiquitously expressed and mediate the recognition of intracellular antigens by cytotoxic T cells. The MHC class I chain-related (MIC) proteins are recognized by NKG2D, a receptor on NK and T cells, and promote anti-tumor activity. MICA, a member of the MIC family, is widely expressed on many tumors, and it is the MICA/NKG2D interaction that is thought to stimula

The protein encoded by this gene is a member of the phospholipase A2 family (PLA2). PLA2s constitute a diverse family of enzymes with respect to sequence, function, localization, and divalent cation requirements. This gene product belongs to group II, which contains secreted form of PLA2, an extracellular enzyme that has a low molecular mass and requires calcium ions for catalysis. It catalyzes the hydrolysis of the sn-2 fatty acid acyl ester bond of phosphoglycerides, releasing free fatty ac

HMGCS2 is a mitochondrial enzyme that catalyzes the first reaction of ketogenesis, a metabolic pathway that provides lipid-derived energy for various organs during times of carbohydrate deprivation, such as fasting. Mutations in this gene are associated with HMG-CoA synthase deficiency. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.