Pleckstrin Homology Domain-Containing Family G Member 5 (PLEKHG5) ELISA Kit for Human

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. [provided by RefSeq, May 2012]

PLEKHG5: Activates the NF-kappa-B signaling pathway and RHOA. Appears to be involved in the control of neuronal cell differentiation. Defects in PLEKHG5 are the cause of distal spinal muscular atrophy autosomal recessive type 4 (DSMA4). Distal spinal muscular atrophy, also known as distal hereditary motor neuronopathy, represents a heterogeneous group of neuromuscular disorders caused by selective degeneration of motor neurons in the anterior horn of the spinal cord, without sensory deficit in the posterior horn. The overall clinical picture consists of a classical distal muscular atrophy syndrome in the legs without clinical sensory loss. The disease starts with weakness and wasting of distal muscles of the anterior tibial and peroneal compartments of the legs. Later on, weakness and atrophy may expand to the proximal muscles of the lower limbs and/or to the distal upper limbs. DSMA4 is characterized by childhood onset, generalized muscle weakness and atrophy with denervation and normal sensation. Bulbar symptoms and pyramidal signs are absent. 5 isoforms of the human protein are produced by alternative splicing.

Chromosomal Location of Human Ortholog: 1p36.31

Cellular Component: cytoplasm; cytosol; endocytic vesicle; intercellular junction; lamellipodium; perinuclear region of cytoplasm; plasma membrane

Molecular Function: guanyl-nucleotide exchange factor activity; Rho guanyl-nucleotide exchange factor activity; signal transducer activity

Biological Process: positive regulation of apoptosis; positive regulation of GTPase activity; positive regulation of I-kappaB kinase/NF-kappaB signaling; regulation of Rho protein signal transduction; regulation of small GTPase mediated signal transduction; signal transduction

Disease: Charcot-marie-tooth Disease, Recessive Intermediate C; Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4