MRFAP1

Chr 4

Morf4 family associated protein 1

Also known as: PAM14, PGR1

NCBI Gene: 93621 ENSG00000179010 UniProt: Q9Y605 OMIM: 616905

The protein interacts with MORF4/MRG family members and the retinoblastoma tumor suppressor protein, functioning in cellular senescence, growth, and immortalization processes. Mutations cause autosomal recessive developmental and epileptic encephalopathy with onset in infancy, characterized by severe intellectual disability, seizures, and progressive microcephaly. The gene shows moderate tolerance to loss-of-function variants based on population genetics data.

OMIM ResearchSummary from RefSeq

This gene encodes an intracellular protein that interacts with members of the MORF4/MRG (mortality factor on chromosome 4/MORF4 related gene) family and the tumor suppressor Rb (retinoblastoma protein.) The protein may play a role in senescence, cell growth and immortalization. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013]

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

Pubs (1 yr)

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P/LP submissions

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P/LP missense

1.14

LOEUF

Multiple*

Mechanism· predicted