GENE NAME | PCMT1 |
CHROMOSOME | 6 |
ENSEMBL ID | ENSG00000120265 |
ENTREZ ID | 5110 |
UNIPROT ACCESSION NUMBER | P22061 |
GO MOLECULAR FUNCTION | protein binding; transferase activity; cadherin binding; protein-L-isoaspartate (D-aspartate) O-methyltransferase activity; methyltransferase activity |
ESSENTIAL IN MOUSE | Non-essential |
PATHWAYS | R-HSA-5676934; R-HSA-392499 |
1 combination linked to PCMT1 | OLI690 |
1 variant linked to PCMT1 | PCMT1:c.13C>T, p.Arg5Cys |
1 disease linked to PCMT1 | Isolated anencephaly |