MCPH1

protein-coding External Resolution
GeneCards NCBI PubMed

External Info (via mygene)

SymbolMCPH1
Namemicrocephalin 1
Typeprotein-coding
Sourcemygene

Summary

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].

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