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Rabbit Anti-MCPH1 Antibody (CSB-PA839866DSR1HU)
Supplier: CUSABIO BIOTECH CO.
MCPH1 AntibodyMore alternative names for the antibody
BRCT repeat inhibitor of TERT expression 1 antibody|BRIT 1 antibody|FLJ12847 antibody|Hypothetical protein FLJ12847 antibody|MCPH 1 antibody|MCPH1 antibody|MCPH1_HUMAN antibody|MCT antibody|Microcephalin 1 antibody|Microcephalin antibody|Microcephaly primary autosomal recessive 1 antibody
Anti-BRIT1 antibody (ab2612)
Anti-BRIT1 antibody (ab2612)
Recommended applications: ELISA, WB, IHC
Recommended dilution: Recommended dilution:WB:1:500-2000,IHC:1:20-1:200
Recommended protocols: check protocols
|Catalogue No.|| |
Recombinant human Microcephalin protein (536-835AA)
ELISA, WB, IHC
|Recommended dilution|| |
|Molecular weight|| |
Antigen Affinity Purified
Shipped at 4 Celcius Degree. Upon delivery aliquot and store at -20 Celcius Degree or -80 Celcius Degree. Avoid repeated freeze.
|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), Unigene:235296( Mouse)
|Protein 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. .
|Protein tissue specificity|| |
Expressed in fetal brain, liver and kidney. .
|Involvement in disease|| |
Microcephaly 1, primary, autosomal recessive (MCPH1) [MIM:251200]: A disease 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. Affected individuals are mentally retarded. Primary microcephaly is further defined by the absence of other syndromic features or significant neurological deficits due to degenerative brain disorder. Some MCHP1 patients also present growth retardation, short stature, and misregulated chromosome condensation as indicated by a high number of prophase-like cells detected in routine cytogenetic preparations and poor-quality metaphase G-banding. . Note=The disease is caused by mutations affecting the gene represented in this entry.
|Protein sequence and domain|| |
BRCT domain 1 is required to prevent abnormal chromosome condensation. It binds directly to the SWI-SNF chromatin remodeling complex (PubMed:19925808).; BRCT domains 2 and 3 recognize phosphoserine/phosphothreonine marks on proteins with high selectivity, and mediate interaction with phosphorylated CDC27. They also mediate the dual recognition of phosphoserine and phosphotyrosine in the C-terminal tail of histone H2AFX (PubMed:22139841, PubMed:22908299 and PubMed:22908299).
|Protein cellular localization|| |
Cytoplasm, cytoskeleton, microtubule organizing center, centrosome .
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|Product type|| |
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