Gene Symbol | SASS6 |
Entrez Gene ID | 163786 |
Full Name | SAS-6 centriolar assembly protein |
Synonyms | MCPH14,SAS-6,SAS6 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | The protein encoded by this gene is a central component of centrioles and is necessary for their duplication and function. Centrioles adopt a cartwheel-shaped structure, with the encoded protein forming the hub and spokes inside a microtubule cylinder. Defects in this gene are a cause of autosomal recessive primary microcephaly. [provided by RefSeq, Oct 2016]. |
Disorder MIM: | |
Disorder Html: | ?Microcephaly 14, primary, autosomal recessive, 616402 (3) |