DNAH11 gene

dynein axonemal heavy chain 11

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

From NCBI Gene:

This gene encodes a ciliary outer dynein arm protein and is a member of the dynein heavy chain family. It is a microtubule-dependent motor ATPase and has been reported to be involved in the movement of respiratory cilia. Mutations in this gene have been implicated in causing Kartagener Syndrome (a combination of situs inversus totalis and Primary Ciliary Dyskinesia (PCD), also called Immotile Cilia Syndrome 1 (ICS1)) and male sterility. [provided by RefSeq, Mar 2013]

From UniProt:

Force generating protein of respiratory cilia. 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.

Covered on Genetics Home Reference:

From NCBI Gene:

  • Ciliary dyskinesia, primary, 7

From UniProt:

Ciliary dyskinesia, primary, 7 (CILD7): 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; reduced fertility is often observed in male patients due to abnormalities of sperm tails. Half of the patients exhibit randomization of left-right body asymmetry and situs inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome. [MIM:611884]

Cytogenetic Location: 7p15.3, which is the short (p) arm of chromosome 7 at position 15.3

Molecular Location: base pairs 21,543,215 to 21,901,568 on chromosome 7 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 7p15.3, which is the short (p) arm of chromosome 7 at position 15.3
  • CILD7
  • DNAHBL
  • DNAHC11
  • DNHBL
  • DPL11