Aliases for CARNS1 Gene
External Ids for CARNS1 Gene
Previous HGNC Symbols for CARNS1 Gene
Previous GeneCards Identifiers for CARNS1 Gene
CARNS1 (EC 22.214.171.124), 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]
GeneCards Summary for CARNS1 Gene
CARNS1 (Carnosine Synthase 1) is a Protein Coding gene. Among its related pathways are beta-Alanine metabolism (KEGG) and homocarnosine biosynthesis. Gene Ontology (GO) annotations related to this gene include ATPase activity and carnosine synthase activity. An important paralog of this gene is HAO1.
UniProtKB/Swiss-Prot Summary for CARNS1 Gene
Catalyzes the synthesis of carnosine and homocarnosine. Carnosine is synthesized more efficiently than homocarnosine.