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
Gene: SKIV2L
Alternate names for this Gene: 170A|DDX13|HLP|SKI2|SKI2W|SKIV2|SKIV2L1|THES2
Gene Summary: DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, which is a human homologue of yeast SKI2 and may be involved in antiviral activity by blocking translation of poly(A) deficient mRNAs. This gene is located in the class III region of the major histocompatibility complex.
Gene is located in Chromosome: 6
Location in Chromosome : 6p21.33
Description of this Gene: Ski2 like RNA helicase
Type of Gene: protein-coding