Centrosomal protein of 41 kDa
The CEP41 gene encodes a protein that is found colocalized with microtubules. It plays a role in cilia function. Mutations cause autosomal recessive Joubert syndrome 15.
Lee JE et al. (2012) CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium.
Yamada T et al. (2002) The gene TSGA14, adjacent to the imprinted gene MEST, escapes genomic imprinting.
Orphanet ID 292992
Update: Aug. 14, 2020