Search for a gene
HSPD1 - heat shock protein family D (Hsp60) member 1
- Synonym(s) : GROEL, GroEL, HSP60
- Previous symbols and names : SPG13, heat shock 60kD protein 1 (chaperonin), heat shock 60kDa protein 1 (chaperonin), spastic paraplegia 13 (autosomal dominant)
- Type : gene with protein product
- Chromosomal location : 2q33.1
- OMIM: 118190
- HGNC: 5261
- UniProtKB: P10809
- Genatlas: HSPD1
- GenCC: HSPD1
- Ensembl: ENSG00000144381
- IUPHAR-DB: -
- Reactome: P10809
- LOVD: HSPD1
Diseases list
- Disease-causing germline mutation(s) in Autosomal dominant spastic paraplegia type 13
ORPHA:100994 
- Disease-causing germline mutation(s) in Pelizaeus-Merzbacher-like disease due to HSPD1 mutation
ORPHA:280288
: AssessedAdditional information
Patient-centred resources for this gene
Research activities on this gene
Specialised Social Services
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.
Orphanet is part of the Gene Curation Coalition, a global effort to harmonise gene-level resources.