Search for a gene
DYNC2H1 - dynein cytoplasmic 2 heavy chain 1
- Synonym(s) : DHC1b, DHC2, DYH1B, hdhc11
- Previous symbols and names : DNCH2, dynein, cytoplasmic, heavy polypeptide 2
- Type : gene with protein product
- Chromosomal location : 11q22.3
- OMIM: 603297
- HGNC: 2962
- UniProtKB: Q8NCM8
- Genatlas: DYNC2H1
- GenCC: DYNC2H1
- Ensembl: ENSG00000187240
- IUPHAR-DB: -
- Reactome: Q8NCM8
- LOVD: DYNC2H1
Diseases list
- Disease-causing germline mutation(s) in Jeune syndrome
ORPHA:474 - Disease-causing germline mutation(s) in Short rib-polydactyly syndrome, Majewski type
ORPHA:93269 - Disease-causing germline mutation(s) in Short rib-polydactyly syndrome, Saldino-Noonan type
ORPHA:93270 - Disease-causing germline mutation(s) in Short rib-polydactyly syndrome, Verma-Naumoff type
ORPHA:93271

Additional 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.