ELISA/assay

Mouse Centrosomal protein of 135 kDa (CEP135) ELISA Kit

MBS7234888

48-Strip-Wells

470 USD

ELISA Kit

Mouse Centrosomal protein of 135 kDa (CEP135) ELISA Kit

Centrosomal protein of 135 kDa (CEP135)

centrosomal protein of 135 kDa; Centrosomal protein of 135 kDa; centrosomal protein of 135 kDa; centrosomal protein 4; centrosome protein cep135; centrosomal protein 135kDa; Centrosomal protein 4

CEP135; CEP135; CEP4; MCPH8; KIAA0635; CEP4; KIAA0635; Cep135

CP135_HUMAN

Mouse

Store all reagents at 2-8 degree C.

Epigenetics and Nuclear Signaling

50083279

NP_079285.2

NM_025009.4

28,910 Da

Cell Cycle Pathway (530733); Cell Cycle, Mitotic Pathway (105765); Centrosome Maturation Pathway (105807); G2/M Transition Pathway (105801); Loss Of Nlp From Mitotic Centrosomes Pathway (105811); Loss Of Proteins Required For Interphase Microtubule Organization From The Centrosome Pathway (105810); Mitotic G2-G2/M Phases Pathway (160942); Recruitment Of Mitotic Centrosome Proteins And Complexes Pathway (105808); Regulation Of PLK1 Activity At G2/M Transition Pathway (771569)

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

48-Strip-Wells

470 USD

96-Strip-Wells

675