Product Name
Microcephalin (MCPH1), Polyclonal Antibody
Full Product Name
Microcephalin Polyclonal Antibody
Product Gene Name
anti-MCPH1 antibody
[Similar Products]
Research Use Only
For Research Use Only. Not for use in diagnostic procedures.
3D Structure
ModBase 3D Structure for Q8NEM0
Other Notes
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.
NCBI/Uniprot data below describe general gene information for MCPH1. It may not necessarily be applicable to this product.
NCBI Accession #
NP_001166045.1
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NCBI GenBank Nucleotide #
NM_001172574.1
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UniProt Primary Accession #
Q8NEM0
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UniProt Secondary Accession #
Q66GU1; Q9H9C7; A0A075B6F8; B4DWW2; E9PGU5; E9PH63[Other Products]
UniProt Related Accession #
Q8NEM0[Other Products]
Molecular Weight
67,915 Da[Similar Products]
NCBI Official Full Name
microcephalin isoform 2
NCBI Official Synonym Full Names
microcephalin 1
NCBI Official Symbol
MCPH1??[Similar Products]
NCBI Official Synonym Symbols
MCT; BRIT1
??[Similar Products]
NCBI Protein Information
microcephalin
UniProt Protein Name
Microcephalin
Protein Family
Microcephalin
UniProt Gene Name
MCPH1??[Similar Products]
NCBI Summary for MCPH1
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]
UniProt Comments for MCPH1
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.
Research Articles on MCPH1
1. Using homozygosity mapping complemented with whole-exome, gene panel or Sanger sequencing, we identified 12 novel mutations in 3 known MCPH-associated genes - 9 in ASPM, 2 in MCPH1 and 1 in CDK5RAP2. The 2 MCPH1 mutations were homozygous microdeletions of 164,250 and 577,594 bp, respectively, for which we were able to map the exact breakpoints
Precautions
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Disclaimer
While every efforts were made to ensure the accuracy of the information provided in this datasheet, MyBioSource will not be liable for any omissions or errors contained herein. MyBioSource reserves the right to make changes to this datasheet at any time without prior notice.
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