Gene: DSCR4

Alternate names for this Gene: DCRB|DSCRB

Gene Summary: The gene is found in a region of chromosome 21 that has been linked to the pathogenesis of Down syndrome. This gene is transcribed from a bi-directional promoter located in an endogenous retrovirus.

Gene is located in Chromosome: 21

Location in Chromosome : 21q22.13

Description of this Gene: Down syndrome critical region 4

Type of Gene: ncRNA

Gene: KCNJ6

Alternate names for this Gene: BIR1|GIRK-2|GIRK2|KATP-2|KATP2|KCNJ7|KIR3.2|KPLBS|hiGIRK2

Gene Summary: This gene encodes a member of the G protein-coupled inwardly-rectifying potassium channel family of inward rectifier potassium channels. This type of potassium channel allows a greater flow of potassium into the cell than out of it. These proteins modulate many physiological processes, including heart rate in cardiac cells and circuit activity in neuronal cells, through G-protein coupled receptor stimulation. Mutations in this gene are associated with Keppen-Lubinsky Syndrome, a rare condition characterized by severe developmental delay, facial dysmorphism, and intellectual disability.

Gene is located in Chromosome: 21

Location in Chromosome : 21q22.13

Description of this Gene: potassium inwardly rectifying channel subfamily J member 6

Type of Gene: protein-coding