Microcephalin 1/BRIT1小脑症基因1/认知相关蛋白抗体

本公司经销Microcephalin 1/BRIT1，小脑症基因1/认知相关蛋白抗体，克隆类型为polyclonal，宿主来源是Rabbit，Microcephalin 1/BRIT1小脑症基因1/认知相关蛋白抗体可应用于WB、elisa、IP、IF、IHC等实验，欢迎垂询订购！

货号：BY-11227R
英文名称：Anti-Microcephalin 1/BRIT1
中文名称：小脑症基因1/认知相关蛋白抗体
其他名称：名BRCT repeat inhibitor of TERT expression 1;BRIT 1;FLJ12847;Hypothetical protein FLJ12847;MCPH 1;MCPH1;MCPH1_HUMAN;MCT antibodyMicrocephalin 1;Microcephalin-1;Microcephaly primary autosomal recessive 1.
抗体来源：Rabbit
克隆类型：polyclonal
蛋白分子量：predicted molecular weight: 92kDa
纯化方法：affinity purified by Protein A
交叉反应：hu
产品介绍：Microcephalin modulates brain size ａnd has been proliferating under strong positive selection for several thousand years, although the nature of the positive selection is poorly understood. Human Microcephalin contains three BRCA1 C-terminal （BRCT） domains ａnd shares 57% identity with its mouse ortholog, the most conserved regions being BRCT domains where there is 80% identity. Predominant expression of human Microcephalin is observed in fetal brain, liver ａnd kidney tissues ａnd is expressed during neurogenesis in mice. Microcephalin displays significantly higher rates of protein evolution in primates than in rodents; this trend is most noticeable for the subset of genes associated with nervous system development. Microcephalin has a very young, single nucleotide, polymorphism haplotype associated with modern humans; this gene is presumably still evolving in Homo sapiens. It functions in DNA damage response ａnd regulation of cell cycle checkpoints.Function : Implicated in chromosome condensation ａnd DNA damage induced cellular responses. May play a role in neurogenesis ａnd regulation of the size of the cerebral cortex.Subunit : Contains 3 BRCT domains.Subcellular Location : Cytoplasm, cytoskeleton, centrosome.Tissue Specificity : Expressed in fetal brain, liver ａnd kidney.DISEASE : Defects in MCPH1 are the cause of microcephaly primary type 1 （MCPH1） [MIM:251200]; also known as true microcephaly or microcephaly vera. 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. This entity is inherited as autosomal recessive trait.Similarity : Contains 3 BRCT domains.