CEP41, Official Symbol CEP41provided by HGNC Official Full Name centrosomal protein 41provided by HGNC Primary source HGNC:HGNC:12370 See related Ensembl:ENSG00000106477 MIM:610523; AllianceGenome:HGNC:12370 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as JBTS15; TSGA14 Summary 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] Expression Broad expression in testis (RPKM 5.8), salivary gland (RPKM 3.3) and 23 other tissues See more Orthologs mouse all