MOSMO
modulator of smoothened
- Ensembl:
- ENSG00000185716
- UniProt:
- Q8NHV5
- Synonyms:
- ATTHOG, BC030336, C16ORF52
Cilia effects upon perturbation of MOSMO
- Cilia number / % ciliated:
- Unknown
- Loss-of-function effect:
- Unknown
- Overexpression effect:
- Unknown
Ciliopathy associations
- Nonsyndromic Tetralogy of Fallot
Subcellular localization
cilia
Function
At the cellular level, Mosmoa localizes at the plasma membrane, cytoplasmic vesicles and primary cilium in both zebrafish and chick embryos. CRISPR/Cas9 mediated inactivation of both mosmoa and mosmob in zebrafish causes frontonasal hypoplasia and craniofacial skeleton defects, which become evident in the adult fish. We thus suggest that MOSMO is a candidate to explain uncharacterized forms of human congenital craniofacial malformations, such as those present in the 16p12.1 chromosomal deletion syndrome encompassing the MOSMO locus (PMID: 34746155).