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DNAI1 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

DNAI1 gene

The DNAI1 gene provides instructions for creating a protein essential for the movement of cilia, which are microscopic, hair-like structures on the surface of cells.

Normal Function

The DNAI1 gene provides instructions for making a protein that is part of a complex called dynein. This complex functions within cell structures known as cilia—microscopic, finger-like projections that extend from the surface of cells. The coordinated back-and-forth movement of these cilia allows the cell to move or helps move the fluid surrounding the cell. Dynein produces the force required for this movement.

Within the core of the cilia, known as the axoneme, dynein complexes are organized into inner dynein arms (IDAs) and outer dynein arms (ODAs). The DNAI1 gene specifically provides instructions for making intermediate chain 1, a component found in the ODAs. The coordinated movement of these dynein arms causes the axoneme to bend, facilitating ciliary motion.

Health Conditions Related to Genetic Changes

  • Heterotaxy syndrome
  • Primary ciliary dyskinesia

Other Names for This Gene

  • dynein, axonemal, intermediate chain 1
  • dynein, axonemal, intermediate polypeptide 1

Genomic Location

The DNAI1 gene is found on chromosome 9.

Frequently Asked Questions

DNAI1 mutations are identified by next‑generation sequencing panels that include all known PCD genes or by whole‑exome sequencing. A primary‑care physician can order the test, but a genetic counselor or pulmonologist often coordinates it to ensure appropriate interpretation and follow‑up. A blood sample (or buccal swab) is sufficient.
Ciliary dysfunction affects the olfactory epithelium, so anosmia or hyposmia is a recognized feature of PCD, including DNAI1 mutations. While it does not usually lead to serious complications, it can affect safety (e.g., detecting smoke). Counsel your son on using smoke detectors and consider referral to an ENT specialist for evaluation and possible supportive therapies.
Prioritize airway clearance (daily chest physiotherapy or a mechanical vest), regular monitoring with pulmonary function tests, and aggressive treatment of bacterial infections using culture‑directed antibiotics. Immunizations (influenza, pneumococcal) are essential, and many centers recommend prophylactic macrolide therapy to reduce exacerbations.
Yes. DNAI1 encodes an outer dynein arm intermediate chain; loss‑of‑function variants can disrupt the embryonic left‑right nodal flow, leading to random organ placement (situs inversus or heterotaxy). If a pathogenic variant is present in a parent, each pregnancy has a 50 % chance of inheriting the mutation. Prenatal ultrasound and, if desired, invasive prenatal genetic testing can assess organ positioning and genotype.
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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