Details for Gene PCMT1

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

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