Gene Symbol | CEP120 |
Entrez Gene ID | 153241 |
Full Name | centrosomal protein 120 |
Synonyms | CCDC100,JBTS31,SRTD13 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene encodes a protein that functions in the microtubule-dependent coupling of the nucleus and the centrosome. A similar protein in mouse plays a role in both interkinetic nuclear migration, which is a characteristic pattern of nuclear movement in neural progenitors, and in neural progenitor self-renewal. Mutations in this gene are predicted to result in neurogenic defects. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]. |
Disorder MIM: | |
Disorder Html: | Short-rib thoracic dysplasia 13 with or without polydactyly, 616300 (3); Joubert syndrome 31, 617761 (3) |