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KIAA0196 encodes a 134 kDa protein named strumpellin that is predicted to have multiple transmembrane domains and a spectrin-repeat-containing domain. Zusätzlich bieten wir Ihnen KIAA0196 Antikörper (13) und und viele weitere Produktgruppen zu diesem Protein an.
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A novel missense mutation was identified in the KIAA0196 gene in a Japanese patient with SPG8.
A mutation in the WASH component KIAA0196 (strumpellin) is associated with hypercholesterolaemia in humans.
Study found a novel KIAA0196 (SPG8) mutation in a Chinese family with spastic paraplegia.
To identify the underlying genetic cause of Ritscher-Schinzel syndrome, affected individuals from a First Nations community in Manitoba underwent mutational analysis. All eight patients were homozygous for a novel splice site mutation in KIAA0196.
we identified a novel KIAA0196 missense variant in the proband and her daughter expanding the clinical spectrum of hereditary spastic paraplegia 8.
We have identified a fourth pathogenic KIAA0196 mutation in a Dutch hereditary spastic paraplegia family, the seventh family worldwide, with a less severe clinical course than described before.
Strumpellin disease mutations do not affect its incorporation into the WASH complex or its subcellular localisation.
strumpellin is a ubiquitously expressed protein present in cytosolic and endoplasmic reticulum cell fractions. In the human central nervous system strumpellin shows a presynaptic localization.
WAFL may play an important role in endocytosis and subsequent membrane trafficking by interacting with AP2 through KIAA0196 and KIAA1033
The expression of KIAA0196 at chromosomal region 8q24 is significantly higher in prostate carcinomas with gene amplification than in those without it.
This gene encodes a 134 kDa protein named strumpellin that is predicted to have multiple transmembrane domains and a spectrin-repeat-containing domain. This ubiquitously expressed gene has its highest expression in skeletal muscle. The protein is named for Strumpell disease\; a form of hereditary spastic paraplegia (HSP). Spastic paraplegias are a diverse group of disorders in which the autosomal dominant forms are characterized by progressive, lower extremity spasticity caused by axonal degeneration in the terminal portions of the longest descending and ascending corticospinal tracts. More than 30 loci (SPG1-33) have been implicated in hereditary spastic paraplegia diseases.
, WASH complex subunit strumpellin