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Gene : PCMT1 Homo sapiens

Name  ? protein-L-isoaspartate (D-aspartate) O-methyltransferase Cytological Location  6q25.1
Brief Description  protein-L-isoaspartate (D-aspartate) O-methyltransferase
description  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]
  • synonyms:
  • OTTHUMG00000015794,
  • PIMT,
  • PCMT1,
  • HGNC:8728,
  • uc003qne.4,
  • NM_001252049
  • identifiers:
  • 5110,
  • ENSG00000120265,
  • PCMT1

Genome feature

Region: gene ? Length: 61727  
Location: 6:149749695-149811421 Cyto location: 6q25.1

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0 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Mouse Gene --> Allele [Phenotype]


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Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

Gene --> GO terms.



2011 SN Ps

5 Cross References

15 Data Sets

8 Homologues

0 Located Features

90 Rna Seq Results