Gene: CARNS1

Alternate names for this Gene: ATPGD1

Gene Summary: CARNS1 (EC 6.3.2.11), a member of the ATP-grasp family of ATPases, catalyzes the formation of carnosine (beta-alanyl-L-histidine) and homocarnosine (gamma-aminobutyryl-L-histidine), which are found mainly in skeletal muscle and the central nervous system, respectively (Drozak et al., 2010 [PubMed 20097752]).[supplied by OMIM, Apr 2010].

Gene is located in Chromosome: 11

Location in Chromosome : 11q13.2

Description of this Gene: carnosine synthase 1

Type of Gene: protein-coding

Gene: PPP1CA

Alternate names for this Gene: PP-1A|PP1A|PP1alpha|PPP1A

Gene Summary: The protein encoded by this gene is one of the three catalytic subunits of protein phosphatase 1 (PP1). PP1 is a serine/threonine specific protein phosphatase known to be involved in the regulation of a variety of cellular processes, such as cell division, glycogen metabolism, muscle contractility, protein synthesis, and HIV-1 viral transcription. Increased PP1 activity has been observed in the end stage of heart failure. Studies in both human and mice suggest that PP1 is an important regulator of cardiac function. Mouse studies also suggest that PP1 functions as a suppressor of learning and memory. Three alternatively spliced transcript variants encoding different isoforms have been found for this gene.

Gene is located in Chromosome: 11

Location in Chromosome : 11q13.2

Description of this Gene: protein phosphatase 1 catalytic subunit alpha

Type of Gene: protein-coding