基因名称(Gene Name)
CENPJ CPAP LAP LIP1
蛋白名称
Centromere protein J (CENP-J) (Centrosomal P4.1-associated protein) (LAG-3-associated protein) (LYST-interacting protein 1)
免疫原
Synthesized peptide derived from human protein . at AA range: 510-590
特异性
CENPJ Monoclonal Antibody detects endogenous levels of protein.
组成
Liquid in PBS containing 50% glycerol, and 0.02% sodium azide.
纯化工艺
The antibody was affinity-purified from mouse antiserum by affinity-chromatography using epitope-specific immunogen.
背景
This gene encodes a protein that belongs to the centromere protein family. During cell division, this protein plays a structural role in the maintenance of centrosome integrity and normal spindle morphology, and it is involved in microtubule disassembly at the centrosome. This protein can function as a transcriptional coactivator in the Stat5 signaling pathway, and also as a coactivator of NF-kapMAB-mediated transcription, likely via its interaction with the coactivator p300/CREB-binding protein. Mutations in this gene are associated with primary autosomal recessive microcephaly, a disorder characterized by severely reduced brain size and mental retardation. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Apr 2012],
功能
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.
