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DNAH5 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

DNAH5 gene

The DNAH5 gene provides instructions for a protein essential to the function of dynein arms, which power the movement of cilia in various human tissues.

Normal Function

The DNAH5 gene provides instructions for making a protein that is part of the dynein complex. This complex functions within cilia, which are microscopic, finger-like projections on the surface of cells in the airway, reproductive system, and other organs. The coordinated movement of cilia is responsible for moving the cell or the fluid surrounding it.

Dynein forms inner dynein arms (IDAs) and outer dynein arms (ODAs) within the core of cilia (the axoneme). The DNAH5 gene provides instructions for the heavy chain 5 protein, a component of the ODAs. The coordinated movement of these arms allows the axoneme to bend back and forth.

Health Conditions Related to Genetic Changes

Primary ciliary dyskinesia

Variants in the DNAH5 gene cause primary ciliary dyskinesia, which is characterized by respiratory tract infections, abnormally placed internal organs, and decreased fertility. These variants result in the production of fewer functional heavy chain 5 proteins.

  • Without this subunit, dynein cannot assemble properly.
  • The outer dynein arms may be shorter than usual or absent.
  • Consequently, cilia cannot produce the force required for movement, leading to the clinical features of the condition.

Heterotaxy syndrome

Variants in the DNAH5 gene have also been associated with heterotaxy syndrome, a condition involving the abnormal placement of internal organs.

Other Names for This Gene

  • DNAHC5
  • dynein heavy chain 5
  • dynein, axonemal, heavy chain 5
  • dynein, axonemal, heavy polypeptide 5

Genomic Location

The DNAH5 gene is found on chromosome 5.

Frequently Asked Questions

During embryonic development, motile cilia generate left‑right signaling currents. A loss‑of‑function DNAH5 mutation disrupts these currents, leading to randomization of organ placement (heterotaxy). If genetic testing confirms a pathogenic DNAH5 variant, it explains the situs abnormality. Management focuses on screening for associated cardiac defects and monitoring organ function, not on correcting the gene itself.
Yes. Targeted sequencing or a multigene panel for PCD can be ordered when a newborn has unexplained respiratory distress, situs abnormalities, or a family history of PCD. A buccal swab or peripheral blood sample provides sufficient DNA. Results typically return in 2–4 weeks, allowing early referral to a pulmonologist and initiation of airway‑clearing therapy.
In males, DNAH5 defects often result in immotile sperm due to dysfunctional flagella; in females, ciliary dysfunction can impair egg transport. Assisted reproductive technologies such as in‑vitro fertilization (IVF) with intracytoplasmic sperm injection (ICSI) can bypass sperm motility issues. Consultation with a reproductive specialist experienced in PCD is recommended.
DNAH5 mutation leads to absent or shortened outer dynein arms, so cilia cannot clear mucus effectively. This makes you prone to chronic infections, bronchiectasis, and sinus disease. Daily care should include airway clearance techniques (e.g., chest physiotherapy, high‑frequency chest wall oscillation), regular sputum cultures to guide antibiotics, and prompt treatment of respiratory infections to preserve lung function.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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