Human MCPH1 Alexa Fluor® 488-conjugated Antibody Summary
Met1-Lys250
Accession # Q8NEM0
Applications
Please Note: Optimal dilutions should be determined by each laboratory for each application. General Protocols are available in the Technical Information section on our website.
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Preparation and Storage
Background: MCPH1
MCPH1 (microcephalin 1), originally identified as an inhibitor of hTERT expression, has been implicated in DNA damage response. MCPH1 contains one N-terminal and two C-terminal BRCT domains. BRCT domains are found predominantly in cell cycle proteins responsive to DNA damage. MCPH1 forms irradiation-induced nuclear foci (IRIF) that colocalize with NBS1, 53BP1, MDC1, and ATM and are abolished with MCPH1 specific siRNA. MCPH1 also regulates the ATR pathway. It colocalizes with ATR and RPA and is required for the phosphorylation of RPA and Rad17. Defects in MCPH1 are the cause of primary microcephaly 1, an autosomal recessive neurodevelopmental disorder.
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