FRMPD4
Domain
The FERM domain mediates the interaction with phosphatidylinositol 4,5-bisphosphate.
Function
Positive regulator of dendritic spine morphogenesis and density. Required for the maintenance of excitatory synaptic transmission. Binds phosphatidylinositol 4,5-bisphosphate.
Involvement in disease
Intellectual developmental disorder, X-linked 104
XLID104
A form of intellectual disability, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Intellectual deficiency is the only primary symptom of non-syndromic X-linked forms, while syndromic forms present with associated physical, neurological and/or psychiatric manifestations.
None
The disease is caused by variants affecting the gene represented in this entry.
Cellular localization
- Cell projection
- Dendritic spine
Alternative names
KIAA0316, PDZD10, PDZK10, FRMPD4, FERM and PDZ domain-containing protein 4, PDZ domain-containing protein 10, PSD-95-interacting regulator of spine morphogenesis, Preso