PCMT1

Description

The PCMT1 (protein-L-isoaspartate (D-aspartate) O-methyltransferase) is a protein-coding gene located on chromosome 6.

PCMT1 is a human gene that encodes for Protein-L-isoaspartate(D-aspartate) O-methyltransferase, an enzyme responsible for repairing damaged proteins. There are three classes of protein carboxyl methyltransferases, distinguished by their substrate specificity. PCMT1 belongs to type II enzymes, which catalyze the transfer of a methyl group from S-adenosyl-L-methionine to the free carboxyl groups of D-aspartyl and L-isoaspartyl residues.

PCMT1, also known as PIMT, catalyzes the methyl esterification of L-isoaspartyl and D-aspartyl residues in damaged proteins. These residues are formed by spontaneous isomerization and racemization of L-aspartyl and L-asparaginyl residues in aging peptides and proteins. This process repairs damaged proteins by restoring their original structure and function. PCMT1 acts on a variety of proteins, including EIF4EBP2, microtubule-associated protein 2, calreticulin, clathrin light chains a and b, Ubiquitin C-terminal hydrolase isozyme L1, phosphatidylethanolamine-binding protein 1, stathmin, beta-synuclein, and alpha-synuclein.

PCMT1 is also known as PIMT.

Associated Diseases

• cancer
• autosomal dominant epilepsy with auditory features
• type 1 diabetes mellitus
• benign familial infantile epilepsy
• progressive myoclonic epilepsy type 6
• developmental and epileptic encephalopathy, 9