Aliases for MCPH1 Gene
External Ids for MCPH1 Gene
Previous GeneCards Identifiers for MCPH1 Gene
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]
GeneCards Summary for MCPH1 Gene
MCPH1 (Microcephalin 1) is a Protein Coding gene. Diseases associated with MCPH1 include Microcephaly 1, Primary, Autosomal Recessive and Primary Autosomal Recessive Microcephaly. Among its related pathways are Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3 and DNA Damage. Gene Ontology (GO) annotations related to this gene include identical protein binding.
UniProtKB/Swiss-Prot Summary for MCPH1 Gene
Implicated in chromosome condensation and DNA damage induced cellular responses. May play a role in neurogenesis and regulation of the size of the cerebral cortex.