Gene: WASHC5

Alternate names for this Gene: KIAA0196|RTSC|RTSC1|SPG8

Gene Summary: 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.

Gene is located in Chromosome: 8

Location in Chromosome : 8q24.13

Description of this Gene: WASH complex subunit 5

Type of Gene: protein-coding

rs1462319941 in WASHC5 gene and 3C syndrome PMID 24065355 2013 A novel mutation in KIAA0196: identification of a gene involved in Ritscher-Schinzel/3C syndrome in a First Nations cohort.

PMID 17160902 2007 Mutations in the KIAA0196 gene at the SPG8 locus cause hereditary spastic paraplegia.

rs12546767 in WASHC5 gene and Amyotrophic Lateral Sclerosis PMID 24931836 2014 C9orf72 and UNC13A are shared risk loci for amyotrophic lateral sclerosis and frontotemporal dementia: a genome-wide meta-analysis.

rs12546767 in WASHC5 gene and Frontotemporal dementia PMID 24931836 2014 C9orf72 and UNC13A are shared risk loci for amyotrophic lateral sclerosis and frontotemporal dementia: a genome-wide meta-analysis.

rs1462319941 in WASHC5 gene and Spastic paraplegia 8, autosomal dominant PMID 24065355 2013 A novel mutation in KIAA0196: identification of a gene involved in Ritscher-Schinzel/3C syndrome in a First Nations cohort.

PMID 20833645 2010 Strumpellin is a novel valosin-containing protein binding partner linking hereditary spastic paraplegia to protein aggregation diseases.

PMID 23881105 2013 Exome sequencing expands the mutational spectrum of SPG8 in a family with spasticity responsive to L-DOPA treatment.

PMID 17160902 2007 Mutations in the KIAA0196 gene at the SPG8 locus cause hereditary spastic paraplegia.

PMID 23085491 2013 The hereditary spastic paraplegia protein strumpellin: characterisation in neurons and of the effect of disease mutations on WASH complex assembly and function.

PMID 25454649 2014 A novel strumpellin mutation and potential pitfalls in the molecular diagnosis of hereditary spastic paraplegia type SPG8.

PMID 23455931 2013 Pure adult-onset spastic paraplegia caused by a novel mutation in the KIAA0196 (SPG8) gene.