Gene: FRMPD4

Alternate names for this Gene: MRX104|PDZD10|PDZK10

Gene Summary: 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.

Gene is located in Chromosome: X

Location in Chromosome : Xp22.2

Description of this Gene: FERM and PDZ domain containing 4

Type of Gene: protein-coding

rs12833832 in FRMPD4 gene and Adolescent idiopathic scoliosis PMID 30019117 2018 The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.

rs886038209 in FRMPD4 gene and MENTAL RETARDATION, X-LINKED 104 PMID 25644381 2016 X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes.

rs12833832 in FRMPD4 gene and SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 PMID 30019117 2018 The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.