DNAH6
Description
The DNAH6 (dynein axonemal heavy chain 6) is a protein-coding gene located on chromosome 2.
DNAH6, also known as Axonemal beta dynein heavy chain 6 or Ciliary dynein heavy chain 6, is a force-generating protein found in respiratory cilia. It generates force towards the minus ends of microtubules. DNAH6 has ATPase activity and the force-producing power stroke is thought to occur upon the release of ADP.
DNAH6 is also known as DNHL1, Dnahc6, HL-2, HL2.
Associated Diseases
- Alzheimer disease
- multiple sclerosis
- Parkinson disease
- lysosomal storage disease
- Mayer-Rokitansky-Kuster-Hauser syndrome
- 46,XX ovotesticular disorder of sex development
- caudal duplication
- testicular agenesis
- 46,XY complete gonadal dysgenesis
- 46,XY sex reversal 3
- WAGR syndrome
- primary ciliary dyskinesia
