LCMT1

Chr 16

leucine carboxyl methyltransferase 1

Also known as: CGI-68, LCMT, PPMT1

NCBI Gene: 51451 ENSG00000205629 UniProt: Q9UIC8

LCMT1 encodes a methyltransferase that methylates the C-terminal leucine residue of protein phosphatase 2A catalytic subunits, which is critical for proper phosphatase regulation. Mutations cause autosomal recessive intellectual disability with variable neurological features including seizures and developmental delay. This gene shows low constraint against loss-of-function variants.

ResearchSummary from RefSeq, UniProt

LCMT1 catalyzes the methylation of the carboxyl group of the C-terminal leucine residue (leu309) of the catalytic subunit of protein phosphatase-2A (PPP2CA; MIM 176915) (De Baere et al., 1999 [PubMed 10600115]).[supplied by OMIM, Mar 2008]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.87

LOEUF

Mechanism· predicted

Some data sources returned errors (1)

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