NP_079285.2
[Other Products]
NCBI GenBank Nucleotide #
|
[Other Products]
UniProt Secondary Accession #
UniProt Related Accession #
NCBI Official Full Name
centrosomal protein of 135 kDa
NCBI Official Synonym Full Names
centrosomal protein 135kDa
NCBI Protein Information
centrosomal protein of 135 kDa; centrosomal protein 4; centrosome protein cep135
UniProt Protein Name
Centrosomal protein of 135 kDa
UniProt Synonym Protein Names
Centrosomal protein 4
UniProt Synonym Gene Names
UniProt Entry Name
CP135_HUMAN
NCBI Summary for CEP135
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]
UniProt Comments for CEP135
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
Research Articles on CEP135
Precautions
All of MyBioSource's Products are for scientific laboratory research purposes and are not for diagnostic, therapeutics, prophylactic or in vivo use. Through your purchase, you expressly represent and warrant to MyBioSource that you will properly test and use any Products purchased from MyBioSource in accordance with industry standards. MyBioSource and its authorized distributors reserve the right to refuse to process any order where we reasonably believe that the intended use will fall outside of our acceptable guidelines.
Disclaimer
While every efforts were made to ensure the accuracy of the information provided in this datasheet, MyBioSource will not be liable for any omissions or errors contained herein. MyBioSource reserves the right to make changes to this datasheet at any time without prior notice. It is the responsibility of the customer to report product performance issues to MyBioSource within 30 days of receipt of the product. Please visit our Terms & Conditions page for more information.
Products associated with CEP135 elisa kit
Pathways associated with CEP135 elisa kit
Diseases associated with CEP135 elisa kit
Organs/Tissues associated with CEP135 elisa kit
|