SPAG1
Function
May play a role in the cytoplasmic assembly of the ciliary dynein arms (By similarity). May play a role in fertilization. Binds GTP and has GTPase activity.
Involvement in disease
Ciliary dyskinesia, primary, 28
CILD28
A disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia. Patients may exhibit randomization of left-right body asymmetry and situs inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome.
None
The disease is caused by variants affecting the gene represented in this entry.
Tissue Specificity
Present in most tissues, including lung, with the strongest expression in brain, colon, kidney, and testis. In sperm and testis, detected in particular in pachytene primary spermatocytes. Up-regulated in pancreatic tumor tissues and not in normal pancreatic tissue.
Cellular localization
- Cytoplasm
- Dynein axonemal particle
- Colocalizes with tubulin.
Alternative names
Sperm-associated antigen 1, HSD-3.8, Infertility-related sperm protein Spag-1, SPAG1