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CEP41 / TSGA14 is 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.
Gene Name: | centrosomal protein 41kDa |
Synonyms: | CEP41, Centrosomal protein 41kDa, Centrosomal protein of 41 kDa, Centrosomal protein 41 kDa, JBTS15, Testis specific, 14, TSGA14, Testis specific protein A14 |
Target Sequences: | AK026098 BAB15359.1 Q9BYV8 |
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