TEL: +86 571 56623320 EMAIL: [email protected]
Product Name Microcephalin 1/BRIT1 Chinese Name 小脑症基因1/认知相关蛋白抗体 Alias 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. Research Area Neurobiology Epigenetics Immunogen Species Rabbit Clonality Polyclonal React Species Mouse, (predicted: Human, Dog, ) Applications WB=1:500-2000 ELISA=1:5000-10000 IHC-P=1:100-500 IHC-F=1:100-500 ICC=1:100-500 IF=1:100-500 (Paraffin sections need antigen repair)
not yet tested in other applications.
optimal dilutions/concentrations should be determined by the end user.Theoretical molecular weight 93kDa Cellular localization cytoplasmic Form Liquid Concentration 1mg/ml immunogen KLH conjugated synthetic peptide derived from human Microcephalin 1/BRIT1: 11-110/835 Lsotype IgG Purification affinity purified by Protein A Buffer Solution 0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glycerol. Storage Shipped at 4℃. Store at -20 °C for one year. Avoid repeated freeze/thaw cycles. Attention This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications. PubMed PubMed Product Detail 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
Product Picture Paraformaldehyde-fixed, paraffin embedded (mouse brain); Antigen retrieval by boiling in sodium citrate buffer (pH6.0) for 15min; Block endogenous peroxidase by 3% hydrogen peroxide for 20 minutes; Blocking buffer (normal goat serum) at 37°C for 30min; Antibody incubation with (Microcephalin 1,BRIT1) Polyclonal Antibody, Unconjugated (SL11227R) at 1:200 overnight at 4°C, followed by operating according to SP Kit(Rabbit) (sp-0023) instructionsand DAB staining.
Scan Wechat Qrcode