MCPH1
Sign in to saveAlso known as BRIT1, MCT, microcephalin 1
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) bu
Key facts
- Protein family.Symbol
- Microcephalin
- Protein family.Name
- Microcephalin protein
- Protein family.image
- Microcephalin.png
- Protein family.alt
- Microcephalin (MCPH1) is a gene that is expressed during fetal brain development
- Protein family.caption
- Microcephalin.png
- Protein family.Pfam
- PF12258
- Protein family.InterPro
- IPR022047
via Wikipedia infobox
Gene data
MCPH1- Name
- microcephalin 1
- Type
- protein-coding
- Position
- 6,406,592–6,648,508 (+)
- Aliases
- BRIT1, MCT
- Ensembl
- ENSG00000147316
- RefSeq RNA
- NM_001172574.2, NM_001172575.2, NM_001322042.2, NM_001322043.2, NM_001322045.2
- RefSeq protein
- NP_001166045.2, NP_001166046.1, NP_001308971.2, NP_001308972.2, NP_001308974.2
This gene encodes a DNA damage response protein. The encoded protein may play a role in G2/M checkpoint arrest via maintenance of inhibitory phosphorylation of cyclin-dependent kinase 1. Mutations in this gene have been associated with primary autosomal recessive microcephaly 1 and premature chromosome condensation syndrome. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2010].
Gene Ontology
Biological process
Molecular function
Cellular component
via MyGene.info
Gene · Ensembl
microcephalin 1
- Symbol
- MCPH1
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 8:6,406,592-6,648,508
- Strand
- Forward (+)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
Wikidata facts
- Image
- Microcephalin.png
Show 5 more facts
- HomoloGene ID
- 32586
- exact match
- identifiers.org/ncbigene/79648
- genomic end
- 6648508
- genomic start
- 6406592
- cytogenetic location
- 8p23.1
via Wikidata · CC0
~5 min read
Article
10 sectionsContents
- Structure
- Expression in the brain
- Evolution
- Controversy
- Other MCPH genes
- Research studies
- See also
- References
- Further reading
- External links
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.
==Structure== Microcephalin proteins contain the following three domains: N-terminal BRCT domain Central microcephalin protein domain () C-terminal BRCT domain