Gene
HSPD1
heat shock protein family D (Hsp60) member 1
- HGNC 5261(opens in a new tab)
- Ensembl gene ENSG00000144381(opens in a new tab)
- NCBI Gene 3329(opens in a new tab)
Summary
- Cytogenetic location
- 2q33.1
- Coordinates
- Chromosome 2: 197,486,584–197,499,840 (GRCh38)
- Exons
- 12 exons across 13.3 kb
- Protein
- 573 amino acids
- Inheritance
- Autosomal dominant Autosomal recessive
- Also known as
- GroEL, HSP60
- Previous symbols
- SPG13
- MANE Select transcript
- ENST00000388968.8NM_002156.5
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Get my Genome TestCurated reports relevant to this gene
Hereditary Spastic Paraplegia
- Hereditary Spastic Paraplegia 13Autosomal dominant
Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the HSPD1 gene.
- 2 GenCC submitters rate it definitive or strong
- Hereditary Spastic Paraplegia (All Types)
One of 66 genes linked to it
Umbrella term covering all hereditary spastic paraplegias, including SPG4 (SPAST), the most common dominant form, and SPG5A, SPG6, SPG10, SPG18, SPG30 and SPG31.
- 2 GenCC submitters rate it definitive or strong
Pelizaeus-Merzbacher Disease & Hypomyelinating Leukodystrophies
- Pelizaeus-Merzbacher-like disease (GJC2 and others)Autosomal recessive
A condition that closely resembles Pelizaeus-Merzbacher disease, most often caused by changes in GJC2, with early nystagmus, delayed development and later spasticity.
- 3 GenCC submitters rate it definitive or strong
Broader groupings
Other Inherited Leukodystrophies
- Leukodystrophy (other and unspecified types)
One of 80 genes linked to it
Inherited conditions that damage or prevent the normal formation of myelin, the white matter of the brain and spinal cord. Different types follow autosomal recessive, autosomal dominant or X-linked inheritance depending on the gene involved.
- 3 GenCC submitters rate it definitive or strong
What knowing changes
Knowing the specific genetic cause can end a diagnostic search, guide supportive care and surveillance, show whether a specific treatment exists, and allow testing of relatives.
Inheritance
- Autosomal dominant
- One changed copy, from either parent, is enough. A parent who has one passes it on to each child with a one-in-two chance.
- Autosomal recessive
- It takes a changed copy from each parent. With one, you are a carrier and usually unaffected; when both parents are carriers, each child has a one-in-four chance of inheriting two.
How HSPD1 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- Stretches short reads find hard
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 2.2 kb of the gene's 13.3 kb; 1,722 of those bases code for the protein.
How a genome test reads HSPD1
4
positions in HSPD1 where ClinVar classes a change as pathogenic or likely pathogenic
1 of them (25%) falls in a region short reads find hard.
- Segmental duplications (1 site)Copies of at least 1 kb sharing at least 90% identity with another part of the genome (paralogues, pseudogenes); reads may align to the wrong copy.
A whole genome covers all 13.3 kb of HSPD1, introns included, not only the 2.2 kb of exons.
Traits linked to HSPD1
The Human Phenotype Ontology lists these as features of the rare conditions HSPD1 can cause. Each trait's page lists the other genes linked to it.
External links
Gene records
Transcript
Protein
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
- The ACMG secondary findings list, SF v3.2.
- ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
Cite this page
Dante Labs. (n.d.). HSPD1 gene: heat shock protein family D (Hsp60) member 1. Retrieved 16 October 2026, from https://dantelabs.com/genes/hspd1
Dante Labs. HSPD1 gene: heat shock protein family D (Hsp60) member 1 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/hspd1
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