Entity Details

Primary name FRMPD4
Entity type gene
Source Source Link

Details

PrimaryID9758
RefseqGeneNG_016419
SymbolFRMPD4
NameFERM and PDZ domain containing 4
ChromosomeX
LocationXp22.2
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1999-11-30
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsFRPD4_HUMAN

GO terms

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GOName
GO:0005546 phosphatidylinositol-4,5-bisphosphate binding
GO:0005856 cytoskeleton
GO:0032991 protein-containing complex
GO:0043197 dendritic spine
GO:0051835 positive regulation of synapse structural plasticity

Diseases

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Disease IDSourceNameDescription
300983 OMIMMental retardation, X-linked 104 (MRX104)A form of mental retardation, 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 mental retardation, while syndromic mental retardation presents with associated physical, neurological and/or psychiatric manifestations. The disease is caused by variants affecting the gene represented in this entry.

Interactions

11 interactions