Microcephalin
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.
known for
2019 in scienceASPM (gene)BRCT domainBefore the Dawn (book)Bruce LahnCerebral cortexCerebral organoidChromosome 15Chromosome 8Evolution of the brainHuman evolutionary geneticsInterbreeding between archaic and modern humansIntrogressionList of OMIM disorder codesList of human protein-coding genes 2MCPHMCPH1Mcph1MicrocephalyMultiregional origin of modern humansNeanderthal geneticsParieto-frontal integration theoryRecent human evolutionThe 10,000 Year ExplosionWDR53
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Microcephalin
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.
has abstract
La microcefalina (MCPH1) es un ...... M situado en el cromosoma 1.
@es
La microcéphaline (MCPH1) est ...... é à la microcéphalie CDK5RAP2.
@fr
MCPH1 (англ. Microcephalin 1) ...... ний у цитоплазмі, цитоскелеті.
@uk
Microcefalina (MCPH1) é um gen ...... cérebro severamente diminuído.
@pt
Microcephalin (MCPH1) is a gen ...... d microcephaly gene, CDK5RAP2.
@en
ميكروسيفالين (MCPH1) هو أحد ال ...... المماثلة قيد الدراسة،CDK5RAP2
@ar
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1,010,825,276
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date
April 2019
@en
InterPro
IPR022047
@en
name
Microcephalin protein
@en
Pfam
PF12258
@en
reason
which research results?
@en
symbol
Microcephalin
@en
wikiPageUsesTemplate
hypernym
comment
La microcefalina (MCPH1) es un ...... M situado en el cromosoma 1.
@es
La microcéphaline (MCPH1) est ...... face du cortex et le volume to
@fr
MCPH1 (англ. Microcephalin 1) ...... : ВалінW: Триптофан Y: Тирозин
@uk
Microcefalina (MCPH1) é um gen ...... cérebro severamente diminuído.
@pt
Microcephalin (MCPH1) is a gen ...... d microcephaly gene, CDK5RAP2.
@en
ميكروسيفالين (MCPH1) هو أحد ال ...... المماثلة قيد الدراسة،CDK5RAP2
@ar
label
MCPH1
@pt
MCPH1
@uk
Microcefalina
@es
Microcephalin
@en
Microcéphaline
@fr
ميكروسيفالين
@ar