Mouse pleckstrin homology domain containing, family G (with RhoGef domain) member 5 ELISA Kit | PLEKHG5 elisa kit

Mouse Pleckstrin homology domain-containing family G member 5, PLEKHG5 ELISA Kit

Cat. Num. AAA9338888

• Gene Names: Plekhg5; Syx; BC023181
• Reactivity: Mouse
• Synonyms: pleckstrin homology domain containing; family G (with RhoGef domain) member 5; Mouse Pleckstrin homology domain-containing family G member 5; PLEKHG5 ELISA Kit; Mouse Pleckstrin homology domain-containing family G member 5 (PLEKHG5) ELISA kit; DSMA4; GEF720; KIAA0720; RP4-650H14.3; NFkB activating protein; novel PH domain-containing protein; pleckstrin homology domain containing family G member 5; PLEKHG5 elisa kit

• Reactivity: Mouse

• Preparation and Storage: Store all reagents at 2-8 degree C

NCBI and Uniprot Product Information

• NCBI GI #: 553237809
• NCBI GeneID: 269608
• NCBI Accession #: NP_001272928.1
• NCBI GenBank Nucleotide #: NM_001285999.1
• UniProt Accession #: Q66T02; Q66T00; Q6P3B1; Q6ZQ62; Q8R571; A2A8B6; A2A8B7
• Molecular Weight: 118,924 Da
• NCBI Official Full Name: pleckstrin homology domain-containing family G member 5
• NCBI Official Synonym Full Names: pleckstrin homology domain containing, family G (with RhoGef domain) member 5
• NCBI Official Symbol: Plekhg5
• NCBI Official Synonym Symbols: Syx; BC023181
• NCBI Protein Information: pleckstrin homology domain-containing family G member 5; synectin-binding RhoA exchange factor; PH domain-containing family G member 5; RhoA-specific guanine exchange factor SYX1; RhoA-specific guanine exchange factor SYX2
• UniProt Protein Name: Pleckstrin homology domain-containing family G member 5
• Protein Family: Pleckstrin homology domain-containing family
• UniProt Gene Name: Plekhg5
• UniProt Synonym Gene Names: Kiaa0720; Syx; PH domain-containing family G member 5; SYX
• UniProt Entry Name: PKHG5_MOUSE

NCBI Description

This gene encodes a protein belonging to the Rho guanine exchange factor (GEF) family of proteins, which activate GTPases by replacing GDP with GTP. This family member is a RhoA GEF that plays a role in endothelial cell migration and tube formation. It is required for angiogenesis and may function in neuronal cell differentiation. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Oct 2013]

Uniprot Description

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.

Cellular Component: cell projection; endocytic vesicle; lamellipodium; cytoplasm; plasma membrane; intercellular junction; cell junction

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

Biological Process: positive regulation of I-kappaB kinase/NF-kappaB cascade; regulation of Rho protein signal transduction; endothelial cell migration; signal transduction; positive regulation of GTPase activity