PLEKHG4 Antibody

1. Role of the guanine nucleotide exchange factor in Akt2-mediated plasma membrane translocation of GLUT4 in insulin-stimulated skeletal muscle. PMID: 25025572
2. This letter suggested cerebellar ataxia due to a pentanucleotide repeat (TAGAA) expansion on the puratrophin-1 (PLEKHG4) gene on chromosome 16q-22.1. PMID: 21357611
3. (TGGAA)(n) repeats in the insertion mutation of PLEKHG4 are related to the pathogenesis of SCA31 PMID: 20424877
4. 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. PMID: 12796826
5. the autosomal dominant cerebellar ataxia that we have characterized is allelic with SCA4 and Japanese 16q-linked ADCA type III. PMID: 15455264
6. puratrophin-1 has a role in intracellular signaling and actin dynamics at the Golgi apparatus PMID: 16001362
7. Mutations of the puratrophin1 gene on chromosome 16q22.1 are not a common genetic cause of cerebellar ataxia in a European population. PMID: 16491300
8. 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. PMID: 16780885
9. 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 PMID: 17357132
10. 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. PMID: 17611710
11. 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. PMID: 18482007
12. The mutation of c.-16C to T of the PURATROPHIN-1 gene might be rare in SCA patients in China. PMID: 19065522

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HGNC: 24501

OMIM: 609526

KEGG: hsa:25894

STRING: 9606.ENSP00000353646

UniGene: Hs.188781