Gene: ATP2A1

Alternate names for this Gene: ATP2A|SERCA1

Gene Summary: This gene encodes one of the SERCA Ca(2+)-ATPases, which are intracellular pumps located in the sarcoplasmic or endoplasmic reticula of muscle cells. This enzyme catalyzes the hydrolysis of ATP coupled with the translocation of calcium from the cytosol to the sarcoplasmic reticulum lumen, and is involved in muscular excitation and contraction. Mutations in this gene cause some autosomal recessive forms of Brody disease, characterized by increasing impairment of muscular relaxation during exercise. Alternative splicing results in three transcript variants encoding different isoforms.

Gene is located in Chromosome: 16

Location in Chromosome : 16p11.2

Description of this Gene: ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 1

Type of Gene: protein-coding

Gene: RABEP2

Alternate names for this Gene: FRA

Gene Summary:

Gene is located in Chromosome: 16

Location in Chromosome : 16p11.2

Description of this Gene: rabaptin, RAB GTPase binding effector protein 2

Type of Gene: protein-coding