DNAH1
| Symbol | DNAH1 |
|---|---|
| HGNC ID | 2950 |
| Alternative symbols | – |
| Entrez Gene | 27028 |
| OMIM | 603332 |
| RefSeq | NM_015512 |
| UniProt | Q9NYC9 |
| Chromosome | 3p21.1 |
| Locus supplementary data | – |
DNAH1 (Dynein Axonemal Heavy Chain 1) is a protein-coding gene in humans. It is part of the dynein family, which are motor proteins that convert chemical energy stored in ATP into mechanical work. This gene is located on the short arm of chromosome 3 at position 21.1.
Function[edit]
DNAH1 encodes a heavy chain subunit of axonemal dynein, which is a component of the axoneme in ciliary and flagellar structures. Dyneins are responsible for the sliding movement of microtubules within these structures, which is essential for ciliary motility and flagellar motility.
Clinical Significance[edit]
Mutations in the DNAH1 gene have been associated with primary ciliary dyskinesia (PCD), a condition characterized by chronic respiratory tract infections, abnormal sperm motility, and infertility. This is due to the impaired function of cilia and flagella, which are crucial for the movement of mucus in the respiratory tract and the propulsion of sperm.
Research[edit]
Studies have shown that DNAH1 mutations can lead to male infertility due to asthenozoospermia, a condition where sperm have reduced motility. Research is ongoing to better understand the role of DNAH1 in ciliary function and its implications in human health.
See Also[edit]
References[edit]
