Gene: SLC44A4

Alternate names for this Gene: C6orf29|CTL4|DFNA72|NG22|TPPT|hTPPT1

Gene Summary: The protein encoded by this gene may be a sodium-dependent transmembrane transport protein involved in the uptake of choline by cholinergic neurons. Defects in this gene can cause sialidosis, a lysosomal storage disease. Three 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: solute carrier family 44 member 4

Type of Gene: protein-coding

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: EHMT2

Alternate names for this Gene: BAT8|C6orf30|G9A|GAT8|KMT1C|NG36

Gene Summary: This gene encodes a methyltransferase that methylates lysine residues of histone H3. Methylation of H3 at lysine 9 by this protein results in recruitment of additional epigenetic regulators and repression of transcription. This gene was initially thought to be two different genes, NG36 and G9a, adjacent to each other in the HLA locus. Alternative splicing results in multiple transcript variants.

Gene is located in Chromosome: 6

Location in Chromosome : 6p21.33

Description of this Gene: euchromatic histone lysine methyltransferase 2

Type of Gene: protein-coding

Gene: LOC107986588

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Gene: EHMT2-AS1

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