PRMT8

Chr 12

protein arginine methyltransferase 8

Also known as: HRMT1L3, HRMT1L4

NCBI Gene: 56341 ENSG00000111218 UniProt: Q9NR22 OMIM: 610086

PRMT8 encodes a membrane-associated arginine methyltransferase that catalyzes monomethylation and asymmetric dimethylation of proteins including myelin basic protein and histones, playing roles in DNA repair, RNA transcription, and signal transduction. The gene is highly constrained against loss-of-function variants (pLI 0.98, LOEUF 0.30), but no specific disease associations have been established in the provided data. An inheritance pattern cannot be determined without identified disease-causing mutations.

OMIM ResearchSummary from RefSeq, UniProt

Arginine methylation is a widespread posttranslational modification mediated by arginine methyltransferases, such as PRMT8. Arginine methylation is involved in a number of cellular processes, including DNA repair, RNA transcription, signal transduction, protein compartmentalization, and possibly protein translation (Lee et al., 2005 [PubMed 16051612]).[supplied by OMIM, Mar 2008]

OMIM ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

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Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.30

LOEUF· LoF intol.

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Mechanism