功能： caution:A CDS in the 3'-UTR of SPG7 mRNA had been erroneously identified as a cell matrix adhesion regulator and originally thought to be encoded by the CMAR gene. There is no experimental evidence for the production of endogenous CMAR protein.,disease:Defects in SPG7 are the cause of spastic paraplegia autosomal recessive type 7 (SPG7) [MIM:607259]. Spastic paraplegia is a degenerative spinal cord disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. SPG7 is a complex form. Additional clinical features are cerebellar syndrome, supranuclear palsy, and cognitive impairment, particularly disturbance of attention and executive functions.,function:Putative ATP-dependent protease.,sequence caution:Translated as Glu.,similarity:In the C-terminal section; belongs to the peptidase M41 family.,similarity:In the N-terminal section; belongs to the AAA ATPase family.,tissue specificity:Ubiquitous.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： Mitochondrion inner membrane ; Multi-pass membrane protein .
功能： caution:A CDS in the 3'-UTR of SPG7 mRNA had been erroneously identified as a cell matrix adhesion regulator and originally thought to be encoded by the CMAR gene. There is no experimental evidence for the production of endogenous CMAR protein.,disease:Defects in SPG7 are the cause of spastic paraplegia autosomal recessive type 7 (SPG7) [MIM:607259]. Spastic paraplegia is a degenerative spinal cord disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. SPG7 is a complex form. Additional clinical features are cerebellar syndrome, supranuclear palsy, and cognitive impairment, particularly disturbance of attention and executive functions.,function:Putative ATP-dependent protease.,sequence caution:Translated as Glu.,similarity:In the C-terminal section; belongs to the peptidase M41 family.,similarity:In the N-terminal section; belongs to the AAA ATPase family.,tissue specificity:Ubiquitous.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： Mitochondrion inner membrane ; Multi-pass membrane protein .
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