| 產(chǎn)品編號(hào) | bs-11227R |
| 英文名稱 | Microcephalin 1/BRIT1 Rabbit pAb |
| 中文名稱 | 小腦癥基因1/認(rèn)知相關(guān)蛋白抗體 |
| 別 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 recessive 1. |
| 研究領(lǐng)域 | 神經(jīng)生物學(xué) 表觀遺傳學(xué) |
| 抗體來源 | Rabbit |
| 克隆類型 | Polyclonal |
| 克 隆 號(hào) | |
| 交叉反應(yīng) | Mouse (predicted: Human,Dog) |
| 產(chǎn)品應(yīng)用 | IHC-P=1:100-500,IHC-F=1:100-500,IF=1:100-500,ICC/IF=1:100-500,ELISA=1:5000-10000
not yet tested in other applications. optimal dilutions/concentrations should be determined by the end user. |
| 理論分子量 | 93 kDa |
| 檢測(cè)分子量 | |
| 細(xì)胞定位 | 細(xì)胞漿 |
| 性 狀 | Liquid |
| 濃 度 | 1mg/ml |
| 免 疫 原 | KLH conjugated synthetic peptide derived from human Microcephalin 1/BRIT1: 11-110/835 |
| 亞 型 | IgG |
| 純化方法 | affinity purified by Protein A |
| 緩 沖 液 | 0.01M TBS (pH7.4) with 1% BSA, 0.02% Proclin300 and 50% Glycerol. |
| 保存條件 | Shipped at 4℃. Store at -20℃ for one year. Avoid repeated freeze/thaw cycles. |
| 注意事項(xiàng) | This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications. |
| PubMed | PubMed |
| 產(chǎn)品介紹 |
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. SWISS: Q8NEM0 Gene ID: 79648 Database links: Entrez Gene: 79648 Human Entrez Gene: 244329 Mouse Omim: 607117 Human SwissProt: Q8NEM0 Human SwissProt: Q7TT79 Mouse Unigene: 656769 Human Unigene: 708770 Human Unigene: 721952 Human |
