PLEKHG5 antibody; KIAA0720 antibody; Pleckstrin homology domain-containing family G member 5 antibody; PH domain-containing family G member 5 antibody; Guanine nucleotide exchange factor 720 antibody; GEF720 antibody
宿主:
Rabbit
反應種屬:
Human
免疫原:
Recombinant Human Pleckstrin homology domain-containing family G member 5 protein (821-957AA)
免疫原種屬:
Homo sapiens (Human)
標記方式:
Biotin
克隆類型:
Polyclonal
抗體亞型:
IgG
純化方式:
>95%, Protein G purified
濃度:
It differs from different batches. Please contact us to confirm it.
Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
貨期:
Basically, we can dispatch the products out in 1-3 working days after receiving your orders. Delivery time maybe differs from different purchasing way or location, please kindly consult your local distributors for specific delivery time.
用途:
For Research Use Only. Not for use in diagnostic or therapeutic procedures.
Functions as a guanine exchange factor (GEF) for RAB26 and thus regulates autophagy of synaptic vesicles in axon terminal of motoneurons. Involved in the control of neuronal cell differentiation. Plays a role in angiogenesis through regulation of endothelial cells chemotaxis. Affects also the migration, adhesion, and matrix/bone degradation in macrophages and osteoclasts.
基因功能參考文獻:
Results indicate that different mutations in PLEKHG5 lead to clinically diverse outcomes Charcot-Marie-Tooth disease or lower motor neuron disease affecting the function of neurons and glial cells. PMID: 23777631
Recruitment of Syx to the cell membrane, the selective activation of Dia1 signaling, coupled with the suppression of ROCK and actin reorganization, plays a key role in establishing cell polarity during directed cell migration. PMID: 24126053
This study identifies compound heterozygous PLEKHG5 mutations as the cause of recessive intermediate Charcot-Marie-Tooth disease. PMID: 23844677
a novel means of regulating junctional Syx localization and function by phosphorylation-induced 14-3-3 binding and further support the importance of Syx function in maintaining stable cell-cell contacts. PMID: 23335514
We identified a homozygous missense mutation (c.1940 T-->C [p.647 Phe-->Ser]) of the Pleckstrin homology domain-containing, family G member 5 gene, PLEKHG5, in families with lower motor neuron disease. PMID: 17564964
Predominantly expressed in the peripheral nervous system and brain. Highest expression is observed in heart, lung, kidney, testis and moderate expression is present in spleen, pancreas, skeletal muscle, ovary and liver. Weakly expressed in glioblastoma (G