Aliases for CEP135 Gene
External Ids for CEP135 Gene
Previous HGNC Symbols for CEP135 Gene
Previous GeneCards Identifiers for CEP135 Gene
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]
GeneCards Summary for CEP135 Gene
CEP135 (Centrosomal Protein 135) is a Protein Coding gene. Diseases associated with CEP135 include Microcephaly 8, Primary, Autosomal Recessive and Autosomal Recessive Primary Microcephaly. Among its related pathways are Regulation of PLK1 Activity at G2/M Transition and Organelle biogenesis and maintenance. GO annotations related to this gene include microtubule binding and protein C-terminus binding. An important paralog of this gene is TSGA10.
UniProtKB/Swiss-Prot for CEP135 Gene
Centrosomal protein involved in centriole biogenesis. Acts as a scaffolding protein during early centriole biogenesis. Required for the targeting of centriole satellite proteins to centrosomes such as of PCM1, SSX2IP and CEP290 and recruitment of WRAP73 to centrioles. Also required for centriole-centriole cohesion during interphase by acting as a platform protein for CEP250 at the centriole.