DNAAF11
Description
DNAAF11, also known as DNAH11, is a gene responsible for encoding a protein crucial for the assembly and function of cilia. Cilia are tiny hair-like structures found on the surface of many cells, playing essential roles in various bodily functions such as sensory perception, fluid movement, and cell signaling. Mutations in the DNAAF11 gene can disrupt ciliary function, leading to a spectrum of human diseases.
Associated Diseases
- Primary Ciliary Dyskinesia (PCD)
- Situs Inversus
- Kartagener Syndrome
- Bronchiectasis
- Infertility
- Hydrocephalus
- Polycystic Kidney Disease
Did you know?
Mutations in DNAAF11 are known to cause a wide range of phenotypes, highlighting the complex interplay between genetic mutations and clinical presentation.
