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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.
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Role of the guanine nucleotide exchange factor (show RASGRF1 Antibodies) in Akt2 (show AKT2 Antibodies)-mediated plasma membrane translocation of GLUT4 (show SLC2A4 Antibodies) in insulin (show INS Antibodies)-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 (show BEAN1 Antibodies)
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 (show PDYN Antibodies) 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 (show PDYN Antibodies).
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.
Role of the guanine nucleotide exchange factor (show ARHGEF12 Antibodies) in Akt2 (show AKT2 Antibodies)-mediated plasma membrane translocation of GLUT4 (show SLC2A4 Antibodies) in insulin (show INS Antibodies)-stimulated skeletal muscle.
Plekhg4 is an aggregation-prone member of the Dbl (show MCF2 Antibodies) family GEFs and regulation of GTPase (show RACGAP1 Antibodies) 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