MARF1

Chr 16

meiosis regulator and mRNA stability factor 1

Also known as: KIAA0430, LKAP, LMKB, PPP1R34

NCBI Gene: 9665 ENSG00000166783 UniProt: Q9Y4F3

MARF1 encodes an essential regulator of oogenesis that represses transposable elements and protects against DNA double-strand breaks during female meiotic progression. Mutations cause primary ovarian insufficiency with autosomal recessive inheritance. This gene is highly constrained against loss-of-function variants, indicating mutations are likely to have significant clinical consequences.

ResearchSummary from RefSeq, UniProt

This gene encodes a putative peroxisomal protein that appears to be conserved across Euteleostomi. In humans, it may be autoantigenic. [provided by RefSeq, Jul 2010]

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

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.12

LOEUF· LoF intol.

LOF

Mechanism· predicted

Some data sources returned errors (1)

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