DNAH2

Description

The DNAH2 gene encodes for a protein called dynein heavy chain 2, a critical component of the ciliary and flagellar dynein motor complex. This complex is essential for the movement of cilia and flagella, structures vital for diverse biological functions ranging from cell signaling and fluid movement to sensory perception and reproduction. Mutations in the DNAH2 gene can disrupt ciliary function, leading to a spectrum of debilitating disorders.

Associated Diseases

• Primary Ciliary Dyskinesia (PCD)
• Kartagener Syndrome
• Situs Inversus
• Bronchiectasis
• Infertility
• Hydrocephalus
• Hearing Loss
• Retinitis Pigmentosa

Did you know?

DNAH2 mutations can lead to a rare condition called situs inversus, where internal organs are mirrored in their positions.