WASHC5 WASH complex subunit 5
Gene ID: 9897, updated on 7-Apr-2024Gene type: protein coding
Also known as: RTSC; SPG8; RTSC1; KIAA0196
- See all available tests in GTR for this gene
- Go to complete Gene record for WASHC5
- Go to Variation Viewer for WASHC5 variants
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. [provided by RefSeq, Aug 2009]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| C9orf72 and UNC13A are shared risk loci for ALS and FTD: A genome-wide meta-analysis. GeneReviews: Not available | |
| Genome-wide association of lipid-lowering response to statins in combined study populations. GeneReviews: Not available | |
| Hereditary spastic paraplegia 8 | See labs |
| Ritscher-Schinzel syndrome 1 | See labs |
Genomic context
- Location:
- 8q24.13
- Sequence:
- Chromosome: 8; NC_000008.11 (125024260..125091792, complement)
- Total number of exons:
- 31
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for WASHC5 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- KIAA0196 database
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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