Aliases for WASHC5 Gene
External Ids for WASHC5 Gene
Previous HGNC Symbols for WASHC5 Gene
Previous GeneCards Identifiers for WASHC5 Gene
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]
GeneCards Summary for WASHC5 Gene
WASHC5 (WASH Complex Subunit 5) is a Protein Coding gene. Diseases associated with WASHC5 include Spastic Paraplegia 8, Autosomal Dominant and Ritscher-Schinzel Syndrome 1. Among its related pathways are Endocytosis.
UniProtKB/Swiss-Prot Summary for WASHC5 Gene
Acts as a component of the WASH core complex that functions as a nucleation-promoting factor (NPF) at the surface of endosomes, where it recruits and activates the Arp2/3 complex to induce actin polymerization, playing a key role in the fission of tubules that serve as transport intermediates during endosome sorting (PubMed:19922875, PubMed:20498093). May be involved in axonal outgrowth. Involved in cellular localization of ADRB2 (PubMed:23085491). Involved in cellular trafficking of BLOC-1 complex cargos such as ATP7A and VAMP7 (PubMed:23676666).