WASHC5 Antibody

1. A novel missense mutation was identified in the KIAA0196 gene in a Japanese patient with SPG8. PMID: 26967522
2. A mutation in the WASH component KIAA0196 (strumpellin) is associated with hypercholesterolaemia in humans. PMID: 26965651
3. Study found a novel KIAA0196 (SPG8) mutation in a Chinese family with spastic paraplegia. PMID: 24824269
4. 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. PMID: 24065355
5. we identified a novel KIAA0196 missense variant in the proband and her daughter expanding the clinical spectrum of hereditary spastic paraplegia 8. PMID: 23881105
6. 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. PMID: 23455931
7. Strumpellin disease mutations do not affect its incorporation into the WASH complex or its subcellular localisation. PMID: 23085491
8. 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. PMID: 20833645
9. WAFL may play an important role in endocytosis and subsequent membrane trafficking by interacting with AP2 through KIAA0196 and KIAA1033 PMID: 20376207
10. The expression of KIAA0196 at chromosomal region 8q24 is significantly higher in prostate carcinomas with gene amplification than in those without it. PMID: 14603436
11. Identified three mutations in the KIAA0196 gene in six families that map to the SPG8 locus. The identification and characterization of the KIAA0196 gene will enable further insight into the pathogenesis of HSP. PMID: 17160902

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HGNC: 28984

OMIM: 220210

KEGG: hsa:9897

STRING: 9606.ENSP00000318016

UniGene: Hs.270043