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HSPD1/HSP60  Protein, Antibody, ELISA Kit, cDNA Clone

Expression host: E. coli  
  • Slide 1
11322-H20E-50
11322-H20E-100
50 µg 
100 µg 
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Expression host: E. coli  
  • Slide 1
50596-M07E-50
50596-M07E-100
50 µg 
100 µg 
Add to Cart

HSPD1/HSP60 Related Area

HSPD1/HSP60 Related Pathways

    HSPD1/HSP60 Summary & Protein Information

    HSPD1/HSP60 Background

    Gene Summary: HSPD1 gene encodes a member of the chaperonin family. The encoded mitochondrial protein 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. This HSP60 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 HSPD1 gene. Two transcript variants encoding the same protein have been identified for HSPD1 gene. Mutations associated with HSPD1 gene cause autosomal recessive spastic paraplegia 13. [provided by RefSeq, Jun 2010]
    General information above from NCBI
    Subunit structure: Interacts with HRAS (By similarity). Interacts with HBV protein X and HTLV-1 protein p40tax. Interacts with ATAD3A. Interacts with METTL20 and METTL21B.
    Subcellular location: Mitochondrion matrix.
    Involvement in disease: Spastic paraplegia 13, autosomal dominant (SPG13) [MIM:605280]: A form of spastic paraplegia, 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. Note=The disease is caused by mutations affecting the gene represented in this entry.
    Leukodystrophy, hypomyelinating, 4 (HLD4) [MIM:612233]: 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 occurs within the first two decades of life. Note=The disease is caused by mutations affecting the gene represented in this entry.
    Sequence similarity: Belongs to the chaperonin (HSP60) family.
    General information above from UniProt

    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.

    HSPD1/HSP60 Alternative Name

    HLD4,CPN60,GROEL,HSP60,HSP65,SPG13,HSP-60,HuCHA60, [homo-sapiens]
    CPN60,GROEL,HLD4,HSP60,HSP65,HSPD1,HuCHA60,SPG13, [human]
    Hsp60,Hspd1,60kDa, [mouse]
    60kDa,Hsp60, [mus-musculus]

    HSPD1/HSP60 Related Studies

  • Hansen J J, et al. (2002) Hereditary spastic paraplegia SPG13 is associated with a mutation in the gene encoding the mitochondrial chaperonin Hsp60. Am J Hum Genet. 70: 1328-32.
  • Magen D, et al. (2008) Mitochondrial Hsp60 chaperonopathy causes an autosomal-recessive neurodegenerative disorder linked to brain hypomyelination and leukodystrophy. Am J Hum Genet. 83: 30-42.
  • Venner TJ, et al. (1990) Nucleotide sequences and novel structural features of human and Chinese hamster hsp60 (chaperonin) gene families. DNA Cell Biol. 9 (8): 545-52.
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