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DYNC1H1 - dynein cytoplasmic 1 heavy chain 1
- Synonym(s) : CMT2O, DHC1, Dnchc1, HL-3, p22
- Previous symbols and names : 'dynein, cytoplasmic, heavy polypeptide 1', DNCH1, DNCL, DNECL, Dynein, cytoplasmic, heavy polypeptide 1
- Type : gene with protein product
- Chromosomal location : 14q32.31
- OMIM: 600112
- HGNC: 2961
- UniProtKB: Q14204
- Genatlas: DYNC1H1
- GenCC: DYNC1H1
- Ensembl: ENSG00000197102
- IUPHAR-DB: -
- Reactome: Q14204
- LOVD: DYNC1H1
Diseases list
- Disease-causing germline mutation(s) in Autosomal dominant Charcot-Marie-Tooth disease type 2O
ORPHA:284232 
- Disease-causing germline mutation(s) in Autosomal dominant non-syndromic intellectual disability
ORPHA:178469 - Disease-causing germline mutation(s) in DYNC1H1-related autosomal dominant childhood-onset proximal spinal muscular atrophy
ORPHA:209341
: AssessedAdditional information
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Research activities on this gene
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