Gene: MCPH1

Alternate names for this Gene: BRIT1|MCT

Gene 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.

Gene is located in Chromosome: 8

Location in Chromosome : 8p23.1

Description of this Gene: microcephalin 1

Type of Gene: protein-coding

Gene: MCPH1-AS1

Alternate names for this Gene:

Gene Summary:

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rs185206099 in MCPH1;MCPH1-AS1 gene and response to bronchodilator PMID 26634245 2015 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry.