About: microcephaly,   Goto Sponge  NotDistinct  Permalink

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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, but in normal individuals no effect on mental ability or behavior has yet been demonstrated in either this or another similarly studied microcephaly gene, ASPM.

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rdfs:comment
  • 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, but in normal individuals no effect on mental ability or behavior has yet been demonstrated in either this or another similarly studied microcephaly gene, ASPM.
foaf:name
  • microcephaly,
  • primary autosomal recessive 1
foaf:depiction
  • External Image
arm
  • p
band
  • 23
chromosome
  • 8
EntrezGene
  • 79648
HGNCid
  • 6954
OMIM id
Symbol
  • MCPH1
  • Microcephalin
  • Microcephalin, BRIT1
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UniProt
  • Q8NEM0
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