MCPH1 (NP_078872, 399 a.a. ~ 487 a.a) partial recombinant protein with GST tag. The sequence is ATSSCVTSAPEEALRCCRQAGKEDACPEGNGFSYTIEDPALPKGHDDDLTPLEGSLEEMK EAVGLKSTQNKGTTSKISNSSEGEAQSEH
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.
Pathway
Cell Cycle; Condensation of Prophase Chromosomes; Mitotic Prophase;
Citations
Publication ()
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