Aliases for KIAA0196 Gene
External Ids for KIAA0196 Gene
Previous HGNC Symbols for KIAA0196 Gene
Previous GeneCards Identifiers for KIAA0196 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 KIAA0196 Gene
KIAA0196 (KIAA0196) is a Protein Coding gene. Diseases associated with KIAA0196 include Ritscher-Schinzel Syndrome and Spastic Paraplegia 8, Autosomal Dominant. Among its related pathways are Endocytosis.
UniProtKB/Swiss-Prot for KIAA0196 Gene
Acts at least in part as component of the WASH core complex whose assembly at the surface of endosomes seems to inhibit WASH nucleation-promoting factor (NPF) activity in recruiting and activating the Arp2/3 complex to induce actin polymerization, and which is involved in regulation of 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).