Gene Symbol | MCPH1 |
Entrez Gene ID | 79648 |
Full Name | microcephalin 1 |
Synonyms | BRIT1,MCT |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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, Feb 2010]. |
Disorder MIM: | |
Disorder Html: | Microcephaly 1, primary, autosomal recessive, 251200 (3) |