Editing Microcephalin (section)

{{Short description|Protein-coding gene in the species Homo sapiens}}
{{Infobox_gene}}
{{Infobox protein family
| Symbol = Microcephalin
| Name = Microcephalin protein
| image = Microcephalin.png
| alt = Microcephalin (MCPH1) is a gene that is expressed during fetal brain development
| width = 
| caption = Microcephalin.png
| Pfam = PF12258
| Pfam_clan = 
| InterPro = IPR022047
| SMART = 
| PROSITE = 
| MEROPS =
| SCOP = 
| TCDB = 
| OPM family = 
| OPM protein = 
| CAZy = 
| PDB = 
}}

'''Microcephalin''' ('''MCPH1''') is a [[gene]] that is expressed during fetal brain development. Certain [[mutation]]s in ''MCPH1'', when [[homozygous]], cause primary [[microcephaly]]—a severely diminished [[Human brain|brain]].<ref name = "microcephalin"/><ref>{{OMIM|251200}}</ref><ref name = "AutoR3-2"/> Hence, it has been assumed that variants have a role in brain development.<ref name = "AutoR3-3"/><ref name = "AutoR3-4"/> However, in normal individuals no effect on [[mind|mental]] ability or [[behavior]] has yet been demonstrated in either this or another similarly studied microcephaly gene, ''[[ASPM (gene)|ASPM]]''.<ref name = "AutoR3-5"/><ref name = "AutoR3-6"/> However, an association has been established between normal variation in brain structure, as measured with [[MRI]] (i.e., primarily ''[[Cerebral cortex|cortical]] surface area'' and total brain volume) but only in females, and common genetic variants within both the MCPH1 gene and another similarly studied microcephaly gene, ''[[CDK5RAP2]]''.<ref name="Rimol_2010">{{cite journal | vauthors = Rimol LM, Agartz I, Djurovic S, Brown AA, Roddey JC, Kähler AK, Mattingsdal M, Athanasiu L, Joyner AH, Schork NJ, Halgren E, Sundet K, Melle I, Dale AM, Andreassen OA | title = Sex-dependent association of common variants of microcephaly genes with brain structure | journal = Proceedings of the National Academy of Sciences of the United States of America | volume = 107 | issue = 1 | pages = 384–8 | date = January 2010 | pmid = 20080800 | pmc = 2806758 | doi = 10.1073/pnas.0908454107 | bibcode = 2010PNAS..107..384R | jstor = 40536283 | doi-access = free }}</ref>