WASH Complex Subunit Strumpellin (KIAA0196) ELISA Kit for Mouse

KIAA0196: Component of the WASH complex, a complex present at the surface of endosomes that recruits and activates the Arp2/3 complex to induce actin polymerization. The WASH complex plays a key role in the fission of tubules that serve as transport intermediates during endosome sorting. Defects in KIAA0196 are the cause of spastic paraplegia autosomal dominant type 8 (SPG8). Spastic paraplegia is a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Spastic paraplegia is a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. Belongs to the strumpellin family.

Chromosomal Location of Human Ortholog: 15|15 D1

Cellular Component: cytoplasm; early endosome; endoplasmic reticulum; endosome

Biological Process: cholesterol homeostasis; endosomal transport; oocyte maturation; polar body extrusion after meiotic divisions; protein transport; transport