其他名称: HSPD1;HSP60;60 kDa heat shock protein;mitochondrial;60 kDa chaperonin;Chaperonin 60;CPN60;Heat shock protein 60;HSP-60;Hsp60; HuCHA60;Mitochondrial matrix protein P1;P60 lymphocyte protein
信号通路: RNA degradation;Type I diabetes mellitus;
功能: disease:Defects in HSPD1 are a cause of spastic paraplegia autosomal dominant type 13 (SPG13) [MIM:605280]. Spastic paraplegia is a degenerative spinal cord disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs.,disease:Defects in HSPD1 are the cause of leukodystrophy hypomyelinating type 4 (HLD4) [MIM:612233]; also called mitochondrial HSP60 chaperonopathy or MitCHAP-60 disease. HLD4 is a severe autosomal recessive hypomyelinating leukodystrophy. Clinically characterized by infantile-onset rotary nystagmus, progressive spastic paraplegia, neurologic regression, motor impairment, profound mental retardation. Death usually occurrs within the first 2 decades of life.,function:Implicated in mitochondrial protein import and macromolecular assembly. May facilitate the correct folding of imported proteins. May also prevent misfolding and promote the refolding and proper assembly of unfolded polypeptides generated under stress conditions in the mitochondrial matrix.,similarity:Belongs to the chaperonin (HSP60) family.,similarity:Belongs to the TCP-1 chaperonin family.,subunit:Interacts with HBV protein X and HTLV-1 protein p40tax.,
其他名称: HSPD1;HSP60;60 kDa heat shock protein;mitochondrial;60 kDa chaperonin;Chaperonin 60;CPN60;Heat shock protein 60;HSP-60;Hsp60; HuCHA60;Mitochondrial matrix protein P1;P60 lymphocyte protein
信号通路: RNA degradation;Type I diabetes mellitus;
功能: disease:Defects in HSPD1 are a cause of spastic paraplegia autosomal dominant type 13 (SPG13) [MIM:605280]. Spastic paraplegia is a degenerative spinal cord disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs.,disease:Defects in HSPD1 are the cause of leukodystrophy hypomyelinating type 4 (HLD4) [MIM:612233]; also called mitochondrial HSP60 chaperonopathy or MitCHAP-60 disease. HLD4 is a severe autosomal recessive hypomyelinating leukodystrophy. Clinically characterized by infantile-onset rotary nystagmus, progressive spastic paraplegia, neurologic regression, motor impairment, profound mental retardation. Death usually occurrs within the first 2 decades of life.,function:Implicated in mitochondrial protein import and macromolecular assembly. May facilitate the correct folding of imported proteins. May also prevent misfolding and promote the refolding and proper assembly of unfolded polypeptides generated under stress conditions in the mitochondrial matrix.,similarity:Belongs to the chaperonin (HSP60) family.,similarity:Belongs to the TCP-1 chaperonin family.,subunit:Interacts with HBV protein X and HTLV-1 protein p40tax.,