microcephalin (MCPH1)

Function

• role in chromosome condensation & DNA damage induced cellular responses
• role in neurogenesis & regulation of cerebral cortex size

Structure

• contains 3 BRCT domains

Compartment

centrosome

Expression

• expressed in fetal brain, liver, kidney

Pathology

• defects in MCPH1 are the cause of primary microcephaly 1
• defects in MCPH1 are a cause of PCC syndrome

More general terms

• other protein

Database

• OMIM: https://mirror.omim.org/entry/251200
• OMIM: https://mirror.omim.org/entry/606858
• OMIM: https://mirror.omim.org/entry/607117
• UniProt: http://www.uniprot.org/uniprot/Q8NEM0.html