DNAH5 gene

dynein axonemal heavy chain 5

The DNAH5 gene provides instructions for making a protein that is part of a group (complex) of proteins called dynein. This complex functions within cell structures called cilia. Cilia are microscopic, finger-like projections that stick out from the surface of cells. Coordinated back and forth movement of cilia can move the cell or the fluid surrounding the cell. Dynein produces the force needed for cilia to move.

Within the core of cilia (the axoneme), dynein complexes are part of structures known as inner dynein arms (IDAs) or outer dynein arms (ODAs) depending on their location. Coordinated movement of the dynein arms causes the entire axoneme to bend back and forth. IDAs and ODAs have different combinations of protein components (subunits) that are classified by weight as heavy, intermediate, or light chains. The DNAH5 gene provides instructions for making heavy chain 5, which is found in ODAs. Other subunits are produced from different genes.

More than 80 mutations in the DNAH5 gene have been found to cause primary ciliary dyskinesia, which is a condition characterized by respiratory tract infections, abnormal organ placement, and an inability to have children (infertility). DNAH5 gene mutations result in an absent or abnormal heavy chain 5. Without a normal version of this subunit, the ODAs cannot form properly and may be shortened or absent. As a result, cilia cannot produce the force needed to bend back and forth. Defective cilia lead to the features of primary ciliary dyskinesia.

Genetics Home Reference provides information about heterotaxy syndrome.

Cytogenetic Location: 5p15.2, which is the short (p) arm of chromosome 5 at position 15.2

Molecular Location: base pairs 13,690,328 to 14,011,829 on chromosome 5 (Homo sapiens Updated Annotation Release 109.20200522, GRCh38.p13) (NCBI)

Cytogenetic Location: 5p15.2, which is the short (p) arm of chromosome 5 at position 15.2
  • axonemal beta dynein heavy chain 5
  • CILD3
  • ciliary dynein heavy chain 5
  • DNAHC5
  • dynein heavy chain 5, axonemal
  • dynein, axonemal, heavy chain 5
  • dynein, axonemal, heavy polypeptide 5
  • FLJ46759
  • HL1
  • KIAA1603