功能: disease:Defects in ZFYVE27 are the cause of spastic paraplegia autosomal dominant type 33 (SPG33) [MIM:610244]. 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:Contains 1 FYVE-type zinc finger.,subcellular location:Punctate vesicles.,subunit:Interacts with SPAST/spastin.,
相關(guān)產(chǎn)品: RS0001,RS0002,YM3028,YM3029
細(xì)胞定位: Recycling endosome membrane ; Multi-pass membrane protein . Endoplasmic reticulum membrane ; Multi-pass membrane protein . Cell projection, growth cone membrane ; Multi-pass membrane protein . Localizes at both dendrites and axons (By similarity). Localizes to endoplasmic reticulum tubular network. .
功能: disease:Defects in ZFYVE27 are the cause of spastic paraplegia autosomal dominant type 33 (SPG33) [MIM:610244]. 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:Contains 1 FYVE-type zinc finger.,subcellular location:Punctate vesicles.,subunit:Interacts with SPAST/spastin.,
相關(guān)產(chǎn)品: RS0001,RS0002,YM3028,YM3029
細(xì)胞定位: Recycling endosome membrane ; Multi-pass membrane protein . Endoplasmic reticulum membrane ; Multi-pass membrane protein . Cell projection, growth cone membrane ; Multi-pass membrane protein . Localizes at both dendrites and axons (By similarity). Localizes to endoplasmic reticulum tubular network. .
科研貨號(hào): PLA020573
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