MFAP3L

Chr 4

microfibril associated protein 3 like

Also known as: NYD-sp9

NCBI Gene: 9848 ENSG00000198948 UniProt: O75121 OMIM: 616523

MFAP3L encodes a protein that participates in nuclear signaling pathways involving EGFR and MAPK1/ERK2 and is located at cell junctions, in the nucleoplasm, and at the plasma membrane. The gene is highly constrained against loss-of-function variants (pLI 0.88, LOEUF 0.42), but specific disease associations and inheritance patterns have not yet been established in clinical practice. Further research is needed to define the clinical phenotypes associated with MFAP3L mutations.

OMIM ResearchSummary from RefSeq, UniProt

Located in several cellular components, including cell junction; nucleoplasm; and plasma membrane. [provided by Alliance of Genome Resources, Jul 2025]

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)

—

P/LP submissions

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P/LP missense

0.42

LOEUF

GOF

Mechanism· predicted