Synonyms:CEP41, ENTREZ:95681, HGNC:12370, JBTS15, MIM:610523, NM_001257158, NM_001257159, NM_001257160, NM_018718, NP_001244087, NP_001244088, NP_001244089, NP_061188, NR_046443, TSGA14, XM_011516709, XM_011516710, XM_024447004, XP_011515011, XP_011515012, XP_024302772, centrosomal protein 41
Omim:OMIM:610523
Id:574fb30c-339c-5c5c-bf74-f8bd8be8514d
Hgnc:HGNC:12370
Description:centrosomal protein 41
This gene encodes a centrosomal and microtubule-binding protein which is predicted to have two coiled-coil domains and a rhodanese domain. In human retinal pigment epithelial cells the protein localized to centrioles and cilia. Mutations in this gene have been associated with Joubert Syndrome 15; an autosomal recessive ciliopathy and neurological disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2012]