HSPD1 Chromosome 2
Heat shock protein family D (Hsp60) member 1
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What This Gene Does
This 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 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. Two transcript variants encoding the same protein have been identified for this gene. Mutations associated with this gene cause autosomal recessive spastic paraplegia 13. [provided by RefSeq, Jun 2010]
Gene Info
Gene Group
"Chaperonins|Mitochondrial nucleoid associated proteins"
Locus Type
gene with protein product
Location
2q33.1
Ensembl
ENSG00000144381
Associated Conditions (8)
Hereditary spastic paraplegia 13
Spastic paraplegia
Hereditary spastic paraplegia
HSPD1-related disorder
Hypomyelinating leukodystrophy 4
Malignant tumor of urinary bladder
Hepatocellular carcinoma
Leukodystrophy
Key Variants
RS11551349
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 13, Spastic paraplegia, Hereditary spastic paraplegia
Health Risk
RS139649754
Conflicting classifications of pathogenicity
Spastic paraplegia, Hypomyelinating leukodystrophy 4, Malignant tumor of urinary bladder
Health Risk
RS1433866863
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 13, Spastic paraplegia, Hereditary spastic paraplegia 13
Health Risk
RS149003485
Conflicting classifications of pathogenicity
Spastic paraplegia, Hereditary spastic paraplegia 13, Spastic paraplegia
Health Risk
RS374322039
Conflicting classifications of pathogenicity
Spastic paraplegia, Hypomyelinating leukodystrophy 4, Spastic paraplegia
Health Risk
RS374694909
Conflicting classifications of pathogenicity
Spastic paraplegia, Spastic paraplegia
Health Risk
RS61755731
Conflicting classifications of pathogenicity
Spastic paraplegia, Spastic paraplegia
Health Risk
RS67967266
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia, Spastic paraplegia, Hereditary spastic paraplegia
Health Risk
RS769110777
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 13, Spastic paraplegia, Hereditary spastic paraplegia 13
Health Risk
RS772029212
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 13, Spastic paraplegia, Hereditary spastic paraplegia 13
Health Risk
RS781462822
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 13, Spastic paraplegia, Hereditary spastic paraplegia 13
Health Risk
RS863224878
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 13, Spastic paraplegia, Hereditary spastic paraplegia 13
Health Risk
All Variants (19)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS11551349 | Health Risk | Conflicting classifications of pathogenicity | Hereditary spastic paraplegia 13, Spastic paraplegia, Hereditary spastic paraplegia |
| RS139649754 | Health Risk | Conflicting classifications of pathogenicity | Spastic paraplegia, Hypomyelinating leukodystrophy 4, Malignant tumor of urinary bladder |
| RS1433866863 | Health Risk | Conflicting classifications of pathogenicity | Hereditary spastic paraplegia 13, Spastic paraplegia, Hereditary spastic paraplegia 13 |
| RS149003485 | Health Risk | Conflicting classifications of pathogenicity | Spastic paraplegia, Hereditary spastic paraplegia 13, Spastic paraplegia |
| RS374322039 | Health Risk | Conflicting classifications of pathogenicity | Spastic paraplegia, Hypomyelinating leukodystrophy 4, Spastic paraplegia |
| RS374694909 | Health Risk | Conflicting classifications of pathogenicity | Spastic paraplegia, Spastic paraplegia |
| RS61755731 | Health Risk | Conflicting classifications of pathogenicity | Spastic paraplegia, Spastic paraplegia |
| RS67967266 | Health Risk | Conflicting classifications of pathogenicity | Hereditary spastic paraplegia, Spastic paraplegia, Hereditary spastic paraplegia |
| RS769110777 | Health Risk | Conflicting classifications of pathogenicity | Hereditary spastic paraplegia 13, Spastic paraplegia, Hereditary spastic paraplegia 13 |
| RS772029212 | Health Risk | Conflicting classifications of pathogenicity | Hereditary spastic paraplegia 13, Spastic paraplegia, Hereditary spastic paraplegia 13 |
| RS781462822 | Health Risk | Conflicting classifications of pathogenicity | Hereditary spastic paraplegia 13, Spastic paraplegia, Hereditary spastic paraplegia 13 |
| RS863224878 | Health Risk | Conflicting classifications of pathogenicity | Hereditary spastic paraplegia 13, Spastic paraplegia, Hereditary spastic paraplegia 13 |
| RS2086169784 | Health Risk | Likely pathogenic | — |
| RS2086193735 | Health Risk | Likely pathogenic | Hypomyelinating leukodystrophy 4, Hypomyelinating leukodystrophy 4 |
| RS2470123138 | Health Risk | Likely pathogenic | HSPD1-related disorder, HSPD1-related disorder |
| RS863224042 | Health Risk | Likely pathogenic | — |
| RS66468541 | Health Risk | Pathogenic | Hereditary spastic paraplegia 13, Hereditary spastic paraplegia 13 |
| RS72466451 | Health Risk | Pathogenic | Hypomyelinating leukodystrophy 4, Leukodystrophy, Hypomyelinating leukodystrophy 4 |
| RS775037805 | Health Risk | Pathogenic | Hereditary spastic paraplegia 13, Hereditary spastic paraplegia 13 |