HSPD1

heat shock protein family D (Hsp60) member 1

2 disorders 2 causative 2q33.1 gene with protein product

HGNC:5261 Monarch NCBI Gene 3329 ENSG00000144381 UniProt P10809 OMIM 118190

Previous symbols: SPG13. Aliases: GroEL, HSP60.

Normal function · from ai-gene-review (P10809, commit 79fe13b38970) · AI-generated, not KB evidence

ai-gene-review has this gene at status IN_PROGRESS; the description is shown only once the review is complete. Read the draft upstream.

In the knowledge base · computed from kb/ at build time

Disorders

Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.

Disorder	Relationship	Where the gene appears
Hereditary Spastic Paraplegia	causative	mechanism: Mitochondrial Chaperonin Hsp60 Folding Defect (SPG13) subtype: SPG13 scoped to subtype: SPG13
Hypomyelinating Leukodystrophy 4	causative germline partial loss of function	mechanism: HSP60 Chaperonin Oligomer Destabilization; HSPD1 Pathogenic Missense Variant

Mechanism modules · computed from kb/

corticospinal_tract_axonopathy via Hereditary Spastic Paraplegia

Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.