Entrez gene ID | | 79648 |
Official gene symbol | | MCPH1 |
Full name | | microcephalin 1 |
Aliases | | ,BRIT1,FLJ12847,MCT, |
Gene 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] |
Location | | Chromosome: 8 Locus: 8p23.1 |
Gene position | | 6264113 - 6501140 Map Viewer |
Gene orientation | | plus |
Gene size | | 237028 bp |
Gene sequence |
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OMIM ID | | 607117 |
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