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.
Immunogen Information
Immunogen
Fusion protein of human MCPH1
Swissprot
Q8NEM0
Synonyms
BRCT repeat inhibitor of TERT expression 1BRIT 1FLJ12847Hypothetical protein FLJ12847MCPH 1MCPH1MCPH1MCTMicrocephalin 1MicrocephalinMicrocephaly primary autosomal recessive 1