Microcephalin 1/BRIT1,小脑症基因1/认知相关蛋白抗体

产品编号HZ-11227R
英文名称Microcephalin 1/BRIT1
中文名称小脑症基因1/认知相关蛋白抗体
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 recessive 1.
说 明 书0.1ml 0.2ml
研究领域神经生物学 表观遗传学
抗体来源Rabbit
克隆类型Polyclonal
交叉反应 Human, Mouse, Dog,
Microcephalin 1/BRIT1,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.
分 子 量93kDa
细胞定位细胞浆
性 状Lyophilized or Liquid
浓 度1mg/1ml
免 疫 原KLH conjugated synthetic peptide derived from human Microcephalin 1/BRIT1
亚 型IgG
纯化方法affinity purified by Protein A
储 存 液0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glycerol.
保存条件Store at -20 °C for one year. Avoid repeated freeze/thaw cycles. The lyophilized antibody is stable at room temperature for at least one month and for greater than a year when kept at -20°C. When reconstituted in sterile pH 7.4 0.01M PBS or diluent of antibody the antibody is stable for at least two weeks at 2-4 °C.
Microcephalin 1/BRIT1,小脑症基因1/认知相关蛋白抗体PubMedPubMed
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 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.

Microcephalin 1/BRIT1,小脑症基因1/认知相关蛋白抗体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.