名称

Human HSPD1 / HSP60 Protein/重组人 HSPD1 / HSP60

规格

20ug

编号

CZDB-012

价格

询价

中文名

Human HSPD1 / HSP60 Protein/重组人 HSPD1 / HSP60

分子别称

HSPD1, CPN60, GROEL, HLD4, HSP60, HSP65, HuCHA60,

分子种属

Human

表达标签

His，S

表达宿主

E. coli

浓度

> 95 % as determined by SDS-PAGE

缓冲液

Lyophilized from sterile PBS, pH 7.4

存储条件

-70°C，应避免反复冻融。

基本描述

HSPD1, also known as HSP60, is a member of the chaperonin family. HSPD1 may function as a signaling molecule in the innate immune system. This protein is essential for the folding and assembly of newly imported proteins in the mitochondria. It may also prevent misfolding and promote the refolding and proper assembly of unfolded polypeptides generated under stress conditions in the mitochondrial matrix. HSPD1 gene is adjacent to a related family member and the region between the 2 genes functions as a bidirectional promoter. Several pseudogenes have been associated with this gene. Mutations associated with this gene cause autosomal recessive spastic paraplegia 13.Defects in HSPD1 are a cause of spastic paraplegia autosomal dominant type 13 (SPG13). Spastic paraplegia is a degenerative spinal cord disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Defects in HSPD1 are the cause of leukodystrophy hypomyelinating type 4 (HLD4); also called mitochondrial HSP60 chaperonopathy or MitCHAP-60 disease. HLD4 is a severe autosomal recessive hypomyelinating leukodystrophy. HSPD1 is cinically characterized by infantile-onset rotary nystagmus, progressive spastic paraplegia, neurologic regression, motor impairment, profound mental retardation. Death usually occurrs within the first two decades of life.