Pathways & interactions
Cytoplasmic dynein 2 heavy chain 1 (IPR026815)
Short name: DYNC2H1
Overlapping homologous superfamilies
- Dynein heavy chain (IPR026983)
- Cytoplasmic dynein 2 heavy chain 1 (IPR026815)
Cytoplasmic dynein 2 heavy chain 1 (DYNC2H1) is a subunit of the cytoplasmic dynein complex 2. It may function as a motor for intraflagellar retrograde transport. It also plays a role in cilia biogenesis [PMID: 8666668].
Defects in DYNC2H1 are the cause of asphyxiating thoracic dystrophy type 3 (ATD3) and the cause of short rib-polydactyly syndrome type 3 (SRPS3, also called Verma-Naumoff syndrome). ATD3 is an autosomal recessive osteochondrodysplasia which often leads to death in infancy because of a severely constricted thoracic cage and respiratory insufficiency [PMID: 19442771]. SRPS3 is a lethal skeletal dysplasia characterised by markedly short ribs, short limbs, polydactyly, narrow thorax, and multiple anomalies of major organs, including heart, intestines, genitalia, kidney, liver, and pancreas [PMID: 19361615].
- PTHR10676:SF352 (PTHR10676:SF352)