{"symbol":"CEP41","synonyms":["JBTS15","TSGA14"],"name":"centrosomal protein 41kDa","description":"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]","ncbiEntrezGeneId":95681,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/95681","proteins":[{"symbol":"CEP41_HUMAN","href":"/api/1.0/protein/CEP41_HUMAN"}],"hgncRootFamilies":[]}