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Gene Protein Transcript Promoter Expression GO/PPI PubMed Cross reference

Gene information for MCPH1 (Homo sapiens)
(Information is obtained from NCBI Gene database)
Entrez gene ID79648
Official gene symbolMCPH1
Full namemicrocephalin 1
Aliases,BRIT1,FLJ12847,MCT,
Gene summaryThis 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]
LocationChromosome: 8   Locus: 8p23.1
Gene position6264113 - 6501140  Map Viewer
Gene orientationplus
Gene size237028 bp
Gene sequence
OMIM ID607117