Anti -MCPH1 (Microcephalin 1, Microcephaly, BRCT Repeat Inhibitor of TERT Expression 1, BRIT1, Hypothetical Protein FLJ12847, MCT, Microcephaly Primary Autosomal Recessive 1)

For Research Use Only. Not for use in diagnostic procedures.

Chromosome: 8; NC_000008.10 (6264113..6501140). Location: 8p23.1

Polyclonal

IgG

Goat

Recognizes human MCPH1. Species Crossreactivity: mouse and rat.

Affinity Purified
Purified by immunoaffinity chromatography.

Supplied as a lyophilized powder from a 0.2um filtered solution in PBS, 5% trehalose. Reconstitute with 100ul sterile 40-50% glycerol, PBS, 0.02% sodium azide.

Lyophilized powder may be stored at -20 degree C. Reconstitute with sterile 40-50% glycerol, PBS, 0.02% sodium azide. Aliquot and store at -20 degree C. Reconstituted product is stable for 12 months at -20 degree C. For maximum recovery of product, centrifuge the original vial after thawing and prior to removing the cap. Further dilutions can be made in assay buffer.

Small volumes of anti-MCPH1 antibody vial(s) may occasionally become entrapped in the seal of the product vial during shipment and storage. If necessary, briefly centrifuge the vial on a tabletop centrifuge to dislodge any liquid in the container`s cap. Certain products may require to ship with dry ice and additional dry ice fee may apply.

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 co-localizes 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.

Antibodies; Abs to Disease Markers

ELISA (EL/EIA), Western Blot (WB)

Suitable for use in Western Blot and ELISA.
Dilution: Western Blot: 1ug/ml

92,877 Da[Similar Products]

microcephalin 1

microcephalin; BRCT-repeat inhibitor of TERT expression 1

Microcephalin

MCPH1_HUMAN

This gene encodes a DNA damage response protein. The encoded protein may play a role in G2/M checkpoint arrest via maintenance of inhibitory phosphorylation of cyclin-dependent kinase 1. Mutations in this gene have been associated with primary autosomal recessive microcephaly 1 and premature chromosome condensation syndrome. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2010]

MCPH1: a DNA damage responsive protein and transcriptional repressor of human telomere reverse transcriptase. An early responder to DNA damage. Required for double strand break repair via homologous recombination and nonhomologous end joining. Promotes chromatin relaxation by recruiting and maintaining the chromatin remodeling SWI-SNF complex at sites of DNA double strand breakage. Participates in the ATR/Chk1-mediated DNA checkpoint in humans and transcriptionally regulates BRCA1 and Chk1. Plays a role in neurogenesis and regulation of the size of the cerebral cortex. Mutations of MCPH1 can cause microcephaly in humans and appears to play an evolutionarily conserved role in brain development. Alterations have been identified in breast, ovarian and prostate cancer. Appears to coordinate S-M transitions in fly embryos.

Protein type: Cell cycle regulation

Chromosomal Location of Human Ortholog: 8p23.1

Cellular Component: nucleoplasm; cytoplasm; microtubule organizing center

Molecular Function: identical protein binding; protein binding

Biological Process: cerebral cortex development; mitotic cell cycle

Disease: Microcephaly 1, Primary, Autosomal Recessive

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