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HSPB8 - heat shock protein family B (small) member 8
- Synonym(s) : CMT2L, E2IG1, H11, HSP22, HspB8
- Previous symbols and names : heat shock 22kDa protein 8, heat shock 27kDa protein 8
- Type : gene with protein product
- Chromosomal location : 12q24.23
- OMIM: 608014
- HGNC: 30171
- UniProtKB: Q9UJY1
- Genatlas: HSPB8
- GenCC: HSPB8
- Ensembl: ENSG00000152137
- IUPHAR-DB: -
- Reactome: Q9UJY1
- LOVD: HSPB8
Diseases list
- Disease-causing germline mutation(s) in Autosomal dominant Charcot-Marie-Tooth disease type 2L
ORPHA:99945 
- Disease-causing germline mutation(s) in Autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome
ORPHA:476093 - Disease-causing germline mutation(s) in Distal hereditary motor neuropathy type 2
ORPHA:139525
: AssessedAdditional information
Patient-centred resources for this gene
Research activities on this gene
Specialised Social Services
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