小脑症基因1/认知相关蛋白抗体
规格：1mg/1ml
英文名： Microcephalin 1/BRIT1
别名： BRCT repeat inhibitor of TERT expression 1; BRIT 1; FLJ12847; Hypothetical protein FLJ12847; MCPH 1; MCPH1; MCPH1_HUMAN; MCT antibody Microcephalin 1; Microcephalin-1; Microcephaly primary autosomal r
分子量： 93kDa
储存液：0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glyce
克隆类型：Polyclonal
亚型：IgG
纯化方法：affinity purified by Protein A
**原：KLH conjugated synthetic peptide derived from human Microcep
交叉反应：Human, Mouse, Dog,
细胞定位：细胞浆
小脑症基因1/认知相关蛋白抗体产品介绍：background: 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 小脑症基因1/认知相关蛋白抗体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 小脑症基因1/认知相关蛋白抗体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. Database links: UniProtKB/Swiss-Prot: Q8NEM0.3 Important Note: This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
小脑症基因1/认知相关蛋白抗体产品应用：WB=1:100-500 ELISA=1:500-1000 IHC-P=1:100-500 IHC-F=1:100-500 ICC=1:100-500 IF=1:100-500 （石蜡切片需做抗原修复） not yet tested in other applications. optimal dilutions/concentrations should be determined by the end user.
研究领域：神经生物学 表观遗传学
储存条件： Store at -20 °C for one year. Avoid repeated freeze/thaw cycles.
来源： Rabbit
外观： Lyophilized or Liquid