Gene: CYP21A2

Alternate names for this Gene: CA21H|CAH1|CPS1|CYP21|CYP21B|P450c21B

Gene Summary: This gene 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 protein localizes to the endoplasmic reticulum and hydroxylates steroids at the 21 position. Its activity is required for the synthesis of steroid hormones including cortisol and aldosterone. Mutations in this gene cause congenital adrenal hyperplasia. A related pseudogene is located near this gene; gene conversion events involving the functional gene and the pseudogene are thought to account for many cases of steroid 21-hydroxylase deficiency. Two transcript variants encoding different isoforms have been found for this gene.

Gene is located in Chromosome: 6

Location in Chromosome : 6p21.33

Description of this Gene: cytochrome P450 family 21 subfamily A member 2

Type of Gene: protein-coding

Gene: NELFE

Alternate names for this Gene: D6S45|NELF-E|RD|RDBP|RDP

Gene Summary: The protein encoded by this gene is part of a complex termed negative elongation factor (NELF) which represses RNA polymerase II transcript elongation. This protein bears similarity to nuclear RNA-binding proteins; however, it has not been demonstrated that this protein binds RNA. The protein contains a tract of alternating basic and acidic residues, largely arginine (R) and aspartic acid (D). The gene localizes to the major histocompatibility complex (MHC) class III region on chromosome 6.

Gene is located in Chromosome: 6

Location in Chromosome : 6p21.33

Description of this Gene: negative elongation factor complex member E

Type of Gene: protein-coding