DYNC2H1
Function
May function as a motor for intraflagellar retrograde transport. Functions in cilia biogenesis. May play a role in transport between endoplasmic reticulum and Golgi or organization of the Golgi in cells (By similarity).
Involvement in disease
Short-rib thoracic dysplasia 3 with or without polydactyly
SRTD3
A form of short-rib thoracic dysplasia, a group of autosomal recessive ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. Polydactyly is variably present. Non-skeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of the disease are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life. Disease spectrum encompasses Ellis-van Creveld syndrome, asphyxiating thoracic dystrophy (Jeune syndrome), Mainzer-Saldino syndrome, and short rib-polydactyly syndrome.
None
The disease is caused by variants affecting the gene represented in this entry. In some cases DYNC2H1 mutations result in disease phenotype in the presence of mutations in NEK1 indicating digenic inheritance (digenic short rib-polydactyly syndrome 3/6 with polydactyly) (PubMed:21211617).
Sequence Similarities
Belongs to the dynein heavy chain family.
Cellular localization
- Cytoplasm
- Cytoskeleton
- Cilium axoneme
- Cell membrane
- Peripheral membrane protein
- Cytoplasm
- Localizes to the apical cytoplasm (By similarity). According to PubMed:8666668, it localizes to Golgi apparatus, cytoplasmic vesicle and endoplasmic reticulum (PubMed:8666668).
Alternative names
DHC1B, DHC2, DNCH2, DYH1B, KIAA1997, DYNC2H1, Cytoplasmic dynein 2 heavy chain 1, Cytoplasmic dynein 2 heavy chain, Dynein cytoplasmic heavy chain 2, Dynein heavy chain 11, Dynein heavy chain isotype 1B, hDHC11