DYNC2H1 : dynein cytoplasmic 2 heavy chain 1
Description
The DYNC2H1 (dynein cytoplasmic 2 heavy chain 1) is a protein-coding gene located on chromosome 11.
The DYNC2H1 gene provides instructions for making a protein that is part of the dynein-2 complex, found in cilia. Dynein-2 functions in intraflagellar transport (IFT), using energy from ATP to move materials from the tip to the base of cilia. IFT is essential for cilia assembly and maintenance. Cilia are involved in many signaling pathways, including the Sonic Hedgehog pathway, crucial for cell growth, division, and maturation, particularly in the development of cartilage and bone.
DYNC2H1 is also known as ATD3, DHC1b, DHC2, DNCH2, DYH1B, SRPS2B, SRTD3, hdhc11.
Associated Diseases
- Jeune syndrome
- Asphyxiating thoracic dystrophy 3
- Short rib-polydactyly syndrome, Verma-Naumoff type
- Asphyxiating thoracic dystrophy
