CFAP52
Function
Microtubule inner protein (MIP) part of the dynein-decorated doublet microtubules (DMTs) in cilia axoneme (PubMed:36191189). Important for proper ciliary and flagellar beating. May act in cooperation with CFAP45 and axonemal dynein subunit DNAH11 (PubMed:33139725). May play a role in cell growth and/or survival (PubMed:15967112).
Involvement in disease
Heterotaxy, visceral, 10, autosomal, with male infertility
HTX10
A form of visceral heterotaxy, a complex disorder due to disruption of the normal left-right asymmetry of the thoracoabdominal organs. Visceral heterotaxy or situs ambiguus results in randomization of the placement of visceral organs, including the heart, lungs, liver, spleen, and stomach. The organs are oriented randomly with respect to the left-right axis and with respect to one another. It can be associated with a variety of congenital defects including cardiac malformations. HTX10 is an autosomal recessive form associated with male infertility.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the CFAP52 family.
Tissue Specificity
Expressed in respiratory cells and sperm (at protein level) (PubMed:33139725, PubMed:36191189). Highly expressed in testis (PubMed:15967112). Up-regulated in hepatocellular carcinoma (HCC) (PubMed:15967112).
Cellular localization
- Cytoplasm
- Cytoplasm
- Cytoskeleton
- Cilium axoneme
- Cytoplasm
- Cytoskeleton
- Flagellum axoneme
- Located in the proximal region of respiratory cilia.
Alternative names
WDR16, WDRPUH, CFAP52, Cilia- and flagella-associated protein 52, WD repeat-containing protein 16, WD40-repeat protein up-regulated in HCC