FRMPD1

Chr 9

FERM and PDZ domain containing 1

Also known as: FRMD2

NCBI Gene: 22844 ENSG00000070601 UniProt: Q5SYB0

FRMPD1 encodes a protein that stabilizes membrane-bound GPSM1 and promotes its interaction with GNAI1, functioning in G protein-coupled receptor signaling and protein localization to membranes. Mutations cause bifrontoparietal polymicrogyria, a brain malformation disorder with autosomal recessive inheritance. This gene shows tolerance to loss-of-function variants (pLI near zero), consistent with the recessive inheritance pattern observed clinically.

ResearchSummary from RefSeq, UniProt

Involved in establishment of protein localization to membrane and regulation of G protein-coupled receptor signaling pathway. Located in cell cortex and plasma membrane. Part of protein-containing complex. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.66

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)