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The protein encoded by PLEKHG4 contains multiple domains suggestive of a role in intracellular signaling and cytoskeleton dynamics at the Golgi apparatus. Zusätzlich bieten wir Ihnen und viele weitere Produktgruppen zu diesem Protein an.
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Role of the guanine nucleotide exchange factor in Akt2-mediated plasma membrane translocation of GLUT4 in insulin-stimulated skeletal muscle.
This letter suggested cerebellar ataxia due to a pentanucleotide repeat (TAGAA) expansion on the puratrophin-1 (PLEKHG4) gene on chromosome 16q-22.1.
(TGGAA)(n) repeats in the insertion mutation of PLEKHG4 are related to the pathogenesis of SCA31
Spinocerebellar ataxia type 4 (SCA4) is mapped to chromosome 16q22.1 in northern germany.Haplotype analyses refined the gene locus to a 3.69 cM interval between D16S3019 and D16S512.
the autosomal dominant cerebellar ataxia that we have characterized is allelic with SCA4 and Japanese 16q-linked ADCA type III.
puratrophin-1 has a role in intracellular signaling and actin dynamics at the Golgi apparatus
Mutations of the puratrophin1 gene on chromosome 16q22.1 are not a common genetic cause of cerebellar ataxia in a European population.
We found the C-to-T substitution in the puratrophin-1 gene in 20 patients with ataxia (16 heterozygotes and four homozygotes) and four asymptomatic carriers in 9 of 24 families with an unknown type of ADCA.
among 686 autosomal dominant spinocerebellar ataxia families in our cohort, 57 families were identified to have 65 affected individuals, who carried the C-to-T substitution of the puratrophin-1 gene
Disease locus of 16q-autosomal dominant cerebellar ataxia was definitely confined to a 900-kb genomic region between the SNP04 and the -16C>T substitution in the puratrophin-1 gene in 16q22.1.
Rac1 activation specifically in membrane ruffles by the guanine-nucleotide-exchange factor FLJ00068 is sufficient for insulin induction of glucose uptake into skeletal-muscle cells.
The mutation of c.-16C to T of the PURATROPHIN-1 gene might be rare in SCA patients in China.
Plekhg4 is an aggregation-prone member of the Dbl family GEFs and regulation of GTPase signaling is critical for proper cerebellar function
The protein encoded by this gene contains multiple domains suggestive of a role in intracellular signaling and cytoskeleton dynamics at the Golgi apparatus. Mutations in this gene are associated with spinocerebellar ataxia 16q22-linked. Several alternatively spliced transcript variants, differing only in the 5' UTR, or encoding a different isoform, have been found for this gene.
PH domain-containing family G member 4
, Purkinje cell atrophy associated protein 1
, Purkinje cell atrophy-associated protein 1
, pleckstrin homology domain-containing family G member 4