Gene Symbol | Cep131 |
Entrez Gene ID | 12009 |
Full Name | centrosomal protein 131 |
Synonyms | AZ1,Azi,Azi1 |
General protein information |
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Gene Type | protein-coding |
Organism | Mus musculus(house mouse) |
Genome | |
Summary | The protein encoding this gene is a centriolar satellite protein that localizes around the basal body via transport along microtubules. Knockdown in mouse fibroblasts results in a reduction in ciliogenesis. Null mutant mice display no discernible ciliary phenotypes and embryonic patterning and adult homeostasis are largely unaffected. Male mice are infertile, however, due to defects in microtubule trafficking in the sperm manchette and flagella. In addition, the protein binds to a complex of proteins associated with Bardet-Biedl syndrome called the BBSome, and depletion of this protein results in an accumulation of the BBSome in cilia. [provided by RefSeq, Oct 2014]. |