CEP135 Antibody – Rabbit Polyclonal

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]

CEP135: Centrosomal protein involved in centriole biogenesis. Acts as a scaffolding protein during early centriole biogenesis. Also required for centriole-centriole cohesion during interphase by acting as a platform protein for CEP250 at the centriole. Defects in CEP135 are the cause of microcephaly, primary, type 8 (MCPH8). MCPH8 is a disease defined as a head circumference more than 3 standard deviations below the age- related mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small. Despite this marked reduction in size, the gyral pattern is relatively well preserved, with no major abnormality in cortical architecture. Affected individuals are mentally retarded. Primary microcephaly is further defined by the absence of other syndromic features or significant neurological deficits due to degenerative brain disorder. Belongs to the CEP135/TSGA10 family. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: Unknown function

Chromosomal Location of Human Ortholog: 4q12

Cellular Component: centriole; centrosome; cytosol

Molecular Function: protein C-terminus binding; protein binding

Biological Process: organelle organization and biogenesis; centriole replication; mitotic cell cycle; G2/M transition of mitotic cell cycle; centriole-centriole cohesion

Disease: Microcephaly 8, Primary, Autosomal Recessive