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TSGA14

Official Full Name
centrosomal protein 41
Organism
Homo sapiens
GeneID
95681
Background
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]
Synonyms
CEP41; JBTS15; TSGA14;

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