功能： disease:Defects in REEP1 are the cause of spastic paraplegia autosomal dominant type 31 (SPG31) [MIM:610250]. 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.,function:May enhance the cell surface expression of odorant receptors.,similarity:Belongs to the DP1 family.,subunit:Interacts with odorant receptor proteins.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： Membrane . Mitochondrion membrane ; Multi-pass membrane protein . Endoplasmic reticulum . Localizes to endoplasmic reticulum tubular network. .
组织表达： Expressed in circumvallate papillae and testis.
功能： disease:Defects in REEP1 are the cause of spastic paraplegia autosomal dominant type 31 (SPG31) [MIM:610250]. 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.,function:May enhance the cell surface expression of odorant receptors.,similarity:Belongs to the DP1 family.,subunit:Interacts with odorant receptor proteins.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： Membrane . Mitochondrion membrane ; Multi-pass membrane protein . Endoplasmic reticulum . Localizes to endoplasmic reticulum tubular network. .
组织表达： Expressed in circumvallate papillae and testis.
在线咨询
湘公网安备