Gene: PLEKHG5

Alternate names for this Gene: CMTRIC|DSMA4|GEF720|Syx|Tech

Gene Summary: This gene encodes a protein that activates the nuclear factor kappa B (NFKB1) signaling pathway. Mutations in this gene are associated with autosomal recessive distal spinal muscular atrophy. Multiple transcript variants encoding different isoforms have been found for this gene.

Gene is located in Chromosome: 1

Location in Chromosome : 1p36.31

Description of this Gene: pleckstrin homology and RhoGEF domain containing G5

Type of Gene: protein-coding

rs144750655 in PLEKHG5 gene and CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE C PMID 17564964 2007 The nuclear factor kappaB-activator gene PLEKHG5 is mutated in a form of autosomal recessive lower motor neuron disease with childhood onset.

PMID 23777631 2013 PLEKHG5 deficiency leads to an intermediate form of autosomal-recessive Charcot-Marie-Tooth disease.

PMID 23844677 2013 Mutations in the PLEKHG5 gene is relevant with autosomal recessive intermediate Charcot-Marie-Tooth disease.

rs3007421 in PLEKHG5 gene and Multiple Sclerosis PMID 24076602 2013 Analysis of immune-related loci identifies 48 new susceptibility variants for multiple sclerosis.

rs12739181 in PLEKHG5 gene and RDW - Red blood cell distribution width result PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs12739181 in PLEKHG5 gene and Red cell distribution width determination PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs144750655 in PLEKHG5 gene and Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4 PMID 23777631 2013 PLEKHG5 deficiency leads to an intermediate form of autosomal-recessive Charcot-Marie-Tooth disease.

PMID 17564964 2007 The nuclear factor kappaB-activator gene PLEKHG5 is mutated in a form of autosomal recessive lower motor neuron disease with childhood onset.