FRMPD3

Chr X

FERM and PDZ domain containing 3

NCBI Gene: 84443 ENSG00000147234 UniProt: Q5JV73

The protein contains PDZ and FERM domains that mediate protein-protein interactions and cytoskeletal organization at the plasma membrane, functioning in cellular signal transduction. Mutations cause autosomal recessive intellectual disability with microcephaly and seizures. The gene is highly constrained against loss-of-function variants (LOEUF 0.476), indicating strong selective pressure to maintain protein function.

ResearchSummary from RefSeq

This gene encodes a protein that contains a PDZ (post synaptic density protein (PSD95), Drosophila disc large tumor suppressor (Dlg1), and zonula occludens-1 protein (zo-1) domain at the N-terminus followed by a FERM domain. The encoded protein is involved in signal transduction. The PDZ domain is thought to function in protein-protein interactions, mainly by binding to specific C-terminal peptides of other proteins. The FERM domain is found in proteins that are localized to the plasma membrane and are associated with the cytoskeleton. [provided by RefSeq, May 2017]

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

—

P/LP missense

0.48

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)

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