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Pleckstrin homology domain containing, family G

novel PH domain-containing protein, PLEKHG5, GEF720
This gene encodes a protein that activates the nuclear factor kappa B (NFKB1) signaling pathway. Multations in this gene have been found in a family with distal spinal muscular atrophy. [provided by RefSeq, Jul 2008] (from NCBI)
Top mentioned proteins: RhoA, Rhodopsin, Actin, MUPP1, CAN
Papers on novel PH domain-containing protein
The distinct genetic pattern of ALS in Turkey and novel mutations.
Başak et al., İstanbul, Turkey. In Neurobiol Aging, Apr 2015
Exome sequencing revealed mutations in OPTN, SPG11, DJ1, PLEKHG5, SYNE1, TRPM7, and SQSTM1 genes, many of them novel.
Intermediate Charcot-Marie-Tooth disease.
Zhang et al., Changsha, China. In Neurosci Bull, 2014
Moreover, GDAP1, KARS, and PLEKHG5 are associated with RI-CMT.
Landscape of the relationship between type 2 diabetes and coronary heart disease through an integrated gene network analysis.
Duan et al., Ningbo, China. In Gene, 2014
In contrast, three hub genes including PLEKHG5 (T2D: OR=1, P=1; CAD: OR=1.12,
PLEKHG5 deficiency leads to an intermediate form of autosomal-recessive Charcot-Marie-Tooth disease.
Chrast et al., Nehe, China. In Hum Mol Genet, 2013
Molecular investigation of the genes from this region allowed identification of two homozygous mutations in PLEKHG5 that produce premature stop codons and are predicted to result in functional null alleles.
FOXC1 in human trabecular meshwork cells is involved in regulatory pathway that includes miR-204, MEIS2, and ITGβ1.
Elahi et al., Dāmghān, Iran. In Exp Eye Res, 2013
It was observed that miR-204 caused decreased expression of FOXC1 and the FOXC1 target genes CLOCK, PLEKHG5, ITGβ1, and MEIS2 in the TM cultures.
A likely role for a novel PH-domain containing protein, PEPP2, in connecting membrane and cytoskeleton.
Zhong et al., Guangzhou, China. In Biocell, 2012
Here we showed that a novel PH domain-containing protein, PEPP2, displayed moderate phosphoinositide binding specificity.
Mutations in the PLEKHG5 gene is relevant with autosomal recessive intermediate Charcot-Marie-Tooth disease.
Choi et al., Seoul, South Korea. In Orphanet J Rare Dis, 2012
BACKGROUND: Mutations in the Pleckstrin homology domain-containing, family G member 5 (PLEKHG5) gene has been reported in a family harboring an autosomal recessive lower motor neuron disease (LMND).
The GTPase-deficient Rnd proteins are stabilized by their effectors.
Manser et al., Singapore, Singapore. In J Biol Chem, 2012
We recently described a new Rnd3 effector Syx, also named PLEKHG5, that interacts with Rnds via a Raf1-like "Ras-binding domain."
RHGF-2 is an essential Rho-1 specific RhoGEF that binds to the multi-PDZ domain scaffold protein MPZ-1 in Caenorhabditis elegans.
Steven et al., Toledo, United States. In Plos One, 2011
RHGF-2 exhibits significant identity to the mammalian RhoGEFs PLEKHG5/Tech/Syx and contains a class I C-terminal PDZ binding motif (SDV) that interacts most strongly to MPZ-1 PDZ domain eight.
Molecular genetics and mechanisms of disease in distal hereditary motor neuropathies: insights directing future genetic studies.
Nicholson et al., Sydney, Australia. In Curr Mol Med, 2011
The mutated genes identified to-date in dHMN include HSPB1, HSPB8, HSPB3, DCTN1, GARS, PLEKHG5, BSCL2, SETX, IGHMBP2, ATP7A and TRPV4.
Biochemical and computational analysis of LNX1 interacting proteins.
McGlade et al., Toronto, Canada. In Plos One, 2010
Using this approach we identify and confirm six novel LNX1 binding partners: KCNA4, PAK6, PLEKHG5, PKC-alpha1, TYK2 and PBK, and suggest that LNX1 functions as a signalling scaffold.
The nuclear factor kappaB-activator gene PLEKHG5 is mutated in a form of autosomal recessive lower motor neuron disease with childhood onset.
Verellen-Dumoulin et al., Brussels, Belgium. In Am J Hum Genet, 2007
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.
The gene for a new brain specific RhoA exchange factor maps to the highly unstable chromosomal region 1p36.2-1p36.3.
Blangy et al., Montpellier, France. In Oncogene, 2001
Here we report the characterization of GEF720, a novel Dbl-like protein related to p115Rho-GEF.
KPL1, which encodes a novel PH domain-containing protein, is induced during ciliated cell differentiation of rat tracheal epithelial cells.
Ostrowski et al., United States. In Exp Lung Res, 2000
Using differential display, we have identified a novel gene, KPL1, induced in rat tracheal epithelial (RTE) cells grown under conditions which stimulate ciliogenesis.
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