PLEKHG5 wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human PLEKHG5 wild-type allele is located in the vicinity of 1p36.31 and is approximately 54 kb in length. This allele, which encodes pleckstrin homology domain-containing family G member 5 protein, is involved in the regulation of nuclear factor kappa B and transforming protein RhoA signaling pathways. Mutation of the gene is associated with recessive intermediate Charcot-Marie-Tooth disease type C and autosomal recessive distal spinal muscular atrophy.

**Synonyms:** - CMTRIC - DSMA4 - GEF720 - KIAA0720 - Pleckstrin Homology Domain Containing, Family G (with RhoGef Domain) Member 5 Gene - Pleckstrin Homology Domain-Containing Protein, Family G. Member 5 Gene - Pleckstrin Homology and RhoGEF Domain Containing G5 wt Allele - Syx - Tech