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Official Full Name
protein-L-isoaspartate (D-aspartate) O-methyltransferase
Background
This gene encodes a member of the type II class of protein carboxyl methyltransferase enzymes. The encoded enzyme plays a role in protein repair by recognizing and converting D-aspartyl and L-isoaspartyl residues resulting from spontaneous deamidation back to the normal L-aspartyl form. The encoded protein may play a protective role in the pathogenesis of Alzheimers disease, and single nucleotide polymorphisms in this gene have been associated with spina bifida and premature ovarian failure. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene.
Synonyms
PCMT1; protein-L-isoaspartate (D-aspartate) O-methyltransferase; protein-L-isoaspartate(D-aspartate) O-methyltransferase; L isoaspartyl protein carboxyl methyltransferase; L isoaspartyl/D aspartyl methyltransferase; PCMT 1; PIMT; Protein beta aspartate methyltransferase; Protein L isoaspartate (D aspartate) O methyltransferase; Protein L isoaspartyl/D aspartyl methyltransferase; OTTHUMP00000017397; OTTHUMP00000017398; OTTHUMP00000017400; protein-beta-aspartate methyltransferase; L-isoaspartyl protein carboxyl methyltransferase; protein L-isoaspartyl/D-aspartyl methyltransferase; PIMT,PCMT1; protein L-isoaspartyl/D-aspartyl me

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