功能： disease:Defects in KIAA0196 are the cause of spastic paraplegia autosomal dominant type 8 (SPG8) [MIM:603563]. 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.,similarity:Belongs to the strumpellin family.,tissue specificity:Expressed ubiquitously.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： Cytoplasm, cytosol . Endoplasmic reticulum . Early endosome . Colocalizes with SYP/synaptophysin in the external molecular layer of the dentate gyrus and in motoneurons of the ventral horn of spinal cord. .
功能： disease:Defects in KIAA0196 are the cause of spastic paraplegia autosomal dominant type 8 (SPG8) [MIM:603563]. 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.,similarity:Belongs to the strumpellin family.,tissue specificity:Expressed ubiquitously.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： Cytoplasm, cytosol . Endoplasmic reticulum . Early endosome . Colocalizes with SYP/synaptophysin in the external molecular layer of the dentate gyrus and in motoneurons of the ventral horn of spinal cord. .
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