CH60_HUMAN
Source:
PM23856902
BSc_CH
PM22954596
Marked as 'Non-membrane protein'
Confidence:
high (present in two of the MS resources)
Search PubMed for
(RBC AND this entry)
Gene names:
HSPD1
, HSP60
Protein names and data:
CH60_HUMAN
, 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; Flags: Precursor
Lenght: 573 a.a.
Mass: 61055 Da
fasta formatted sequence
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.
Disease:
( OMIM:
118190
605280
612233
)
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.
Cellular location:
Mitochondrion matrix.
Genetic variants
29 - 29
D -> G (in HLD4; transfection with the mutant protein impairs cell growth that worsens with increasing temperature). VAR_054785
98 - 98
V -> I (in SPG13). VAR_026748
Database cross-references
UniProt:
P10809
Ensembl:
ENST00000345042
Ensembl:
ENST00000388968
MIM:
118190
MIM:
605280
MIM:
612233
neXtProt:
NX_P10809
Antibodypedia:
P10809
(may not find the protein thus also not any antibody)
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