DNAH9 gene

dynein axonemal heavy chain 9

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

This gene encodes the heavy chain subunit of axonemal dynein, a large multi-subunit molecular motor. Axonemal dynein attaches to microtubules and hydrolyzes ATP to mediate the movement of cilia and flagella. The gene expresses at least two transcript variants; additional variants have been described, but their full length nature has not been determined. [provided by RefSeq, Jul 2008]

From UniProt:

Force generating protein required for cilia beating in respiratory epithelia (PubMed:30471717, PubMed:30471718). Produces force towards the minus ends of microtubules. Dynein has ATPase activity; the force-producing power stroke is thought to occur on release of ADP.

From NCBI Gene:

  • CILIARY DYSKINESIA, PRIMARY, 40

From UniProt:

Ciliary dyskinesia, primary, 40 (CILD40): A form of primary ciliary dyskinesia, a disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. Some patients exhibit randomization of left-right body asymmetry and situs inversus. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome. CILD40 inheritance is autosomal recessive. [MIM:618300]

Cytogenetic Location: 17p12, which is the short (p) arm of chromosome 17 at position 12

Molecular Location: base pairs 11,598,470 to 11,970,168 on chromosome 17 (Homo sapiens Updated Annotation Release 109.20190607, GRCh38.p13) (NCBI)

Cytogenetic Location: 17p12, which is the short (p) arm of chromosome 17 at position 12
  • CILD40
  • DNAH17L
  • Dnahc9
  • DNEL1
  • DYH9
  • HL-20
  • HL20