MCPH1, Official Symbol MCPH1provided by HGNC Official Full Name microcephalin 1provided by HGNC Primary source HGNC:HGNC:6954 See related Ensembl:ENSG00000147316 MIM:607117; AllianceGenome:HGNC:6954 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as MCT; BRIT1 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] Expression Ubiquitous expression in bone marrow (RPKM 1.3), testis (RPKM 1.1) and 25 other tissues See more Orthologs mouse all