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Microcephalin 1 (MCPH1)

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BRIT1; Microcephaly,Primary Autosomal Recessive 1; BRCT-Repeat Inhibitor Of TERT Expression 1

Microcephalin 1 (MCPH1)
CCC L131
HGNC 6954
MGI 2443308
PubMed 23516444
RGD 1560642
UniProt Q8NEM0
Wiki MCPH1
Microcephalin is one of six genes causing primary microcephaly when non-functional mutations exist in the homozygous state. Derived from the Greek words for "small" and "head", this condition is characterised by a severely diminished brain. Hence it has been assumed that variants have a role in brain development, but in normal individuals no effect on mental ability, brain size or behavior has been attributed to either this or another similarly studied microcephaly gene, ASPM.
MCPH1 is expressed in the fetal brain, in the developing forebrain, and on the walls of the lateral ventricles. Cells of this area divide, producing neurons that migrate to eventually form the cerebral cortex.

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Microcephalin 1 (MCPH1) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Microcephalin 1 (MCPH1) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Microcephalin 1 (MCPH1) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Microcephalin 1 (MCPH1) CLIA Kit Customized Service Offer
n/a ELISA Kit for Microcephalin 1 (MCPH1) ELISA Kit Customized Service Offer

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Microcephalin 1 (MCPH1) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Microcephalin 1 (MCPH1) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Microcephalin 1 (MCPH1) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Microcephalin 1 (MCPH1) CLIA Kit Customized Service Offer
n/a ELISA Kit for Microcephalin 1 (MCPH1) ELISA Kit Customized Service Offer

Organism species: Rattus norvegicus (Rat)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Microcephalin 1 (MCPH1) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Microcephalin 1 (MCPH1) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Microcephalin 1 (MCPH1) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Microcephalin 1 (MCPH1) CLIA Kit Customized Service Offer
n/a ELISA Kit for Microcephalin 1 (MCPH1) ELISA Kit Customized Service Offer
  1. "Prostate cancer-related gene 3 (pg3) and biallelic markers thereof."Patent number WO0114550, 01-MAR-2001
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  8. "Microcephalin encodes a centrosomal protein."Cell Cycle 5:457-458(2006) [PubMed] [Europe PMC] [Abstract]
  9. "A quantitative atlas of mitotic phosphorylation."Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed] [Europe PMC] [Abstract]
  10. "A pocket on the surface of the N-terminal BRCT domain of Mcph1 is required to prevent abnormal chromosome condensation."J. Mol. Biol. 395:908-915(2010) [PubMed] [Europe PMC] [Abstract]
  11. "Molecular basis for the association of microcephalin (MCPH1) protein with the cell division cycle protein 27 (Cdc27) subunit of the anaphase-promoting complex."J. Biol. Chem. 287:2854-2862(2012) [PubMed] [Europe PMC] [Abstract]
  12. "Specific recognition of phosphorylated tail of H2AX by the tandem BRCT domains of MCPH1 revealed by complex structure."J. Struct. Biol. 177:459-468(2012) [PubMed] [Europe PMC] [Abstract]
  13. "Dual recognition of phosphoserine and phosphotyrosine in histone variant H2A.X by DNA damage response protein MCPH1."Proc. Natl. Acad. Sci. U.S.A. 109:14381-14386(2012) [PubMed] [Europe PMC] [Abstract]
  14. "The first missense alteration in the MCPH1 gene causes autosomal recessive microcephaly with an extremely mild cellular and clinical phenotype."Hum. Mutat. 26:496-496(2005) [PubMed] [Europe PMC] [Abstract]
  15. "A common SNP of MCPH1 is associated with cranial volume variation in Chinese population."Hum. Mol. Genet. 17:1329-1335(2008) [PubMed] [Europe PMC] [Abstract]