PCMTD2

Chr 20

protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 2

Also known as: C20orf36

NCBI Gene: 55251 ENSG00000203880 UniProt: Q9NV79 OMIM: 620077

The protein is predicted to function as a protein-L-isoaspartate O-methyltransferase involved in protein modification and may also act as a substrate recognition component of an E3 ubiquitin ligase complex that targets proteins for degradation. Mutations cause autosomal recessive developmental and epileptic encephalopathy with onset in infancy, characterized by severe intellectual disability, seizures, and progressive neurodegeneration. The gene shows tolerance to loss-of-function variants, consistent with the recessive inheritance pattern observed in affected individuals.

OMIM ResearchSummary from RefSeq, UniProt

Predicted to enable protein-L-isoaspartate (D-aspartate) O-methyltransferase activity. Predicted to be active in cytoplasm. [provided by Alliance of Genome Resources, Jun 2026]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

0.78

LOEUF

Multiple*

Mechanism· predicted