Gene Symbol | CEP41 |
Entrez Gene ID | 95681 |
Full Name | centrosomal protein 41 |
Synonyms | JBTS15,TSGA14 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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]. |
Disorder MIM: | |
Disorder Html: | Joubert syndrome 15, 614464 (3) |