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About: Microcephalin     Goto   Sponge   NotDistinct   Permalink

An Entity of Type : umbel-rc:ProteinMolecule, within Data Space : dbpedia.demo.openlinksw.com associated with source document(s)

Type: ThingBiomoleculegeneBiomoleculeGeneyago:WikicatAnimalGenesyago:Abstraction100002137yago:Arrangement107938773yago:Chemical114806838yago:Compound114818238yago:Gene105436752yago:Group100031264yago:Macromolecule114944888yago:Material114580897yago:Matter100020827yago:Molecule114682133yago:Ordering108456993yago:OrganicCompound114727670yago:Part113809207yago:PhysicalEntity100001930yago:Protein114728724yago:Relation100031921yago:WikicatGenesyago:WikicatGenesMutatedInMiceHumanGeneproteinyago:Sequence108459252yago:Series108457976yago:Substance100019613yago:Thing100002452yago:Unit109465459umbel-rc:ProteinMolecule New Facet based on Instances of this Class

Microcephalin (MCPH1) is a gene that is expressed during fetal brain development. Certain mutations in MCPH1, when homozygous, cause primary microcephaly—a severely diminished brain. Hence, it has been assumed that variants have a role in brain development. However, in normal individuals no effect on mental ability or behavior has yet been demonstrated in either this or another similarly studied microcephaly gene, ASPM. However, an association has been established between normal variation in brain structure, as measured with MRI (i.e., primarily 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.