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Details of DYNC2H1 gene in Homo sapiens
IDs |
Link outs |
Gene Name |
Alias |
Uniprot ID |
SwissProt ID |
NCBI gene ID |
ENSEMBL ID |
Description |
Source |
| DYNC2H1 | DHC1B,DHC2,DNCH2,DYH1B,KIAA1997 | Q8NCM8 | DYHC2_HUMAN | 79659 | ENSG00000187240 | Cytoplasmic dynein 2 heavy chain 1 | SPROT |
Disease |
Disease |
OMIM id |
Asphyxiating thoracic dystrophy 3 (ATD3) [MIM:613091]: An autosomal recessive chondrodysplasia characterized by a severely constricted thoracic cage, short-limbed short stature, and polydactyly. It often leads to death in infancy because of respiratory insufficiency. Retinal degeneration, cystic renal disease and hepatic disease can be present in affected individuals who survive early childhood. Note=The disease is caused by mutations affecting the gene represented in this entry. |
613091 |
Short rib-polydactyly syndrome 3 (SRPS3) [MIM:263510]: A lethal skeletal dysplasia characterized by markedly short ribs, short limbs, polydactyly, narrow thorax, and multiple anomalies of major organs, including heart, intestines, genitalia, kidney, liver, and pancreas. Note=The disease is caused by mutations affecting the gene represented in this entry. |
263510 |