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Dynein cytoplasmic 2 heavy chain 1 (DYNC2H1)
- Target
- DYNC2H1
- Molecular classification
- Cytoplasmic motor protein, Cytoskeletal molecular motor, ATPase, Microtubule-associated motor protein
01
Overview
Dynein cytoplasmic 2 heavy chain 1 (DYNC2H1) is a large ATPase and microtubule-based motor protein that forms the heavy chain of the cytoplasmic dynein-2 complex. This complex is essential for retrograde intraflagellar transport (IFT) within cilia, moving cargo from the tip to the base. DYNC2H1 plays a crucial role in the assembly, maintenance, and function of cilia, being directly involved in several key cellular signaling pathways, including the Sonic Hedgehog pathway, which is essential for skeletal development and organogenesis. Mutations in DYNC2H1 cause a range of inherited disorders classified as skeletal ciliopathies, most notably short-rib thoracic dysplasia with or without polydactyly, asphyxiating thoracic dystrophy, and various types of short-rib polydactyly syndromes. Disease phenotypes arise from defective retrograde ciliary transport, leading to abnormal signaling and cellular development. DYNC2H1 is not currently a target for approved therapeutic drugs, though it is considered a diagnostic marker through genetic testing for ciliary disorders
- Other names
- DHC1bDHC2DNCH2DYH1Bhdhc11KIAA1997Dynein cytoplasmic heavy chain 2Dynein heavy chain 11Dynein heavy chain isotype 1BCytoplasmic dynein 2 heavy chainDynein, cytoplasmic, heavy polypeptide 2ATD3SRPS2BSRTD3
02
Mechanism of action
no targeted drugs; disease association is loss-of-function/missense pathogenicity
03
Biological functions
Intraflagellar transport (IFT)Retrograde transport within ciliaCilia biogenesisTransport between endoplasmic reticulum and Golgi (putative)Mediation of cellular signaling pathways (e.g., Sonic Hedgehog)
04
Disease associations
Short-rib thoracic dysplasia (with or without polydactyly)Asphyxiating thoracic dystrophy (ATD/Jeune syndrome)Short-rib polydactyly syndrome types I, II, III (Saldino-Noonan, Majewski, Verma-Naumoff syndromes)Other ciliopathies (rare skeletal, kidney, liver, retinal disorders)
05
Safety considerations
No therapeutic use, so safety concerns pertain only to the genetic consequences, not drug therapy.Mutations can cause perinatal lethal disorders, severe skeletal and organ system abnormalities, pleiotropic effects in ciliary diseases
06
Biomarkers
DYNC2H1 genetic testing (patient selection for diagnosis of skeletal ciliopathies)Compound heterozygous mutations for phenotype correlation
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