FRMPD4 gene

FERM and PDZ domain containing 4

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

This gene encodes a multi-domain (WW, PDZ, FERM) containing protein. Through its interaction with other proteins (such as PSD-95), it functions as a positive regulator of dendritic spine morphogenesis and density, and is required for the maintenance of excitatory synaptic transmission. [provided by RefSeq, Jan 2010]

From UniProt:

Positive regulator of dendritic spine morphogenesis and density. Required for the maintenance of excitatory synaptic transmission. Binds phosphatidylinositol 4,5-bisphosphate.

From NCBI Gene:

  • Autism, susceptibility to, X-linked 4
  • Mental retardation, X-linked 104

From UniProt:

Mental 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. [MIM:300983]

Cytogenetic Location: Xp22.2, which is the short (p) arm of the X chromosome at position 22.2

Molecular Location: base pairs 12,137,329 to 12,724,523 on the X chromosome (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: Xp22.2, which is the short (p) arm of the X chromosome at position 22.2
  • MRX104
  • PDZD10
  • PDZK10