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WASHC5鎶椾綋
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闈舵爣锛欬p style="text-indent: 2em;">WASHC5
浜у搧鍒悕锛欬p style="text-indent: 2em;">KIAA0196锛 RTSC锛 RTSC1锛 SPG8锛 WASHC5锛 WASH complex subunit 5锛 WASH complex subunit 5锛 WASH complex subunit 5锛 WASH complex subunit strumpellin锛 strumpellin锛 鑳屾櫙淇℃伅锛欬div style="text-indent: 2em;">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], 瀹夸富锛歊bt |
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