MCPH1

Also known as BRIT1, MCT, microcephalin 1

gene umano

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].