Gene Symbol | CEP135 |
Entrez Gene ID | 9662 |
Full Name | centrosomal protein 135 |
Synonyms | CEP4,KIAA0635,MCPH8 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene encodes a centrosomal protein, which acts as a scaffolding protein during early centriole biogenesis, and is also required for centriole-centriole cohesion during interphase. Mutations in this gene are associated with autosomal recessive primary microcephaly-8. [provided by RefSeq, Jun 2012]. |
Disorder MIM: | |
Disorder Html: | Microcephaly 8, primary, autosomal recessive, 614673 (3) |