Aliases for CARNMT1 Gene
External Ids for CARNMT1 Gene
Previous HGNC Symbols for CARNMT1 Gene
The protein encoded by this gene is a methyltransferase that converts carnosine to anserine, a dipeptide found abundantly in skeletal muscle. The encoded protein can methylate other dipeptides as well. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Feb 2016]
GeneCards Summary for CARNMT1 Gene
CARNMT1 (Carnosine N-Methyltransferase 1) is a Protein Coding gene. Diseases associated with CARNMT1 include Hypotrichosis 4 and Alacrima, Achalasia, And Mental Retardation Syndrome. Among its related pathways are Metabolism and Viral mRNA Translation.
UniProtKB/Swiss-Prot Summary for CARNMT1 Gene
N-methyltransferase that catalyzes the formation of anserine (beta-alanyl-N(Pi)-methyl-L-histidine) from carnosine. Anserine, a methylated derivative of carnosine (beta-alanyl-L-histidine), is an abundant constituent of vertebrate skeletal muscles. Also methylates other L-histidine-containing di- and tripeptides such as Gly-Gly-His, Gly-His and homocarnosine (GABA-His).