CENPJ Polyclonal Antibody

disease:Defects in CENPJ are the cause of primary microcephaly autosomal recessive type 6 (MCPH6) [MIM:608393]. Microcephaly is 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. Primary microcephaly is further defined by the absence of other syndromic features or significant neurological deficits.,function:May play an important role in cell division and centrosome function. Inhibits microtubule nucleation from the centrosome.,similarity:Belongs to the TCP10 family.,subcellular location:Localized within the center of microtubule asters.,subunit:Associated with the gamma-tubulin complex. Interacts with the head domain of EPB41. Interacts with LYST.,