Search for a gene
HSPA9 - heat shock protein family A (Hsp70) member 9
- Synonym(s) : 75 kDa glucose-regulated protein, GRP75, mortalin, mortalin2, mot-2, mthsp75, PBP74, Stress-70 protein, mitochondrial
- Previous symbols and names : HSPA9B, heat shock 70kDa protein 9 (mortalin), heat shock 70kDa protein 9B (mortalin-2)
- Type : gene with protein product
- Chromosomal location : 5q31.2
- OMIM: 600548
- HGNC: 5244
- UniProtKB: P38646
- Genatlas: HSPA9
- GenCC: HSPA9
- Ensembl: ENSG00000113013
- IUPHAR-DB: -
- Reactome: P38646
- LOVD: HSPA9
Diseases list
- Disease-causing germline mutation(s) in EVEN-plus syndrome
ORPHA:496751 
- Disease-causing germline mutation(s) (loss of function) in Autosomal recessive sideroblastic anemia
ORPHA:260305
: 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.