PCMT1, Official Symbol PCMT1provided by HGNC Official Full Name protein-L-isoaspartate (D-aspartate) O-methyltransferaseprovided by HGNC Primary source HGNC:HGNC:8728 See related Ensembl:ENSG00000120265 MIM:176851; AllianceGenome:HGNC:8728 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as PIMT Summary 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 Alzheimer's 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. [provided by RefSeq, Oct 2011] Expression Ubiquitous expression in brain (RPKM 58.1), heart (RPKM 34.4) and 25 other tissues See more Orthologs mouse all