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MCPH1 is 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.
Gene Name: | microcephalin 1 |
Synonyms: | MCPH1, BRIT1, MCT, Microcephalin, Microcephalin 1 |
Target Sequences: | NM_024596 NP_078872.2 Q8NEM0 |
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