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MCPH1

MCPH1

The information on this page was automatically extracted from online scientific databases.

What is the official name of the MCPH1 gene?

The official name of this gene is “microcephalin 1.”

MCPH1 is the gene's official symbol. The MCPH1 gene is also known by other names, listed below.

Read more about gene names and symbols on the About page.

What is the normal function of the MCPH1 gene?

From NCBI GeneThis link leads to a site outside Genetics Home Reference.:

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]

From UniProtThis link leads to a site outside Genetics Home Reference.:

Implicated in chromosome condensation and DNA damage induced cellular responses. May play a role in neurogenesis and regulation of the size of the cerebral cortex.

How are changes in the MCPH1 gene related to health conditions?

Genetics Home Reference provides information about autosomal recessive primary microcephaly, which is associated with changes in the MCPH1 gene.
UniProtThis link leads to a site outside Genetics Home Reference. provides the following information about the MCPH1 gene's known or predicted involvement in human disease.

Microcephaly 1, primary, autosomal recessive (MCPH1): A disease defined as a head circumference more than 3 standard deviations below the age-related mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small. Despite this marked reduction in size, the gyral pattern is relatively well preserved, with no major abnormality in cortical architecture. Affected individuals are mentally retarded. Primary microcephaly is further defined by the absence of other syndromic features or significant neurological deficits due to degenerative brain disorder. Some MCHP1 patients also present growth retardation, short stature, and misregulated chromosome condensation as indicated by a high number of prophase-like cells detected in routine cytogenetic preparations and poor-quality metaphase G-banding.[1]This link leads to a site outside Genetics Home Reference. The disease is caused by mutations affecting the gene represented in this entry.

NCBI GeneThis link leads to a site outside Genetics Home Reference. lists the following diseases or traits (phenotypes) known or believed to be associated with changes in the MCPH1 gene.
  • Primary autosomal recessive microcephaly 1[1]This link leads to a site outside Genetics Home Reference.
UniProt and NCBI Gene cite these articles in OMIM, a catalog designed for genetics professionals and researchers that provides detailed information about genetic conditions and genes.
 Article
Number
Main Topic
[1]

Where is the MCPH1 gene located?

Cytogenetic Location: 8p23.1

Molecular Location on chromosome 8: base pairs 6,406,591 to 6,643,618

The MCPH1 gene is located on the short (p) arm of chromosome 8 at position 23.1.

The MCPH1 gene is located on the short (p) arm of chromosome 8 at position 23.1.

More precisely, the MCPH1 gene is located from base pair 6,406,591 to base pair 6,643,618 on chromosome 8.

See How do geneticists indicate the location of a gene? in the Handbook.

Where can I find additional information about MCPH1?

You and your healthcare professional may find the following resources about MCPH1 helpful.

You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the MCPH1 gene or gene products?

  • BRIT1
  • MCT

Where can I find general information about genes?

The Handbook provides basic information about genetics in clear language.

These links provide additional genetics resources that may be useful.

What glossary definitions help with understanding MCPH1?

autosomal ; autosomal recessive ; cerebral cortex ; chromosome ; degenerative ; DNA ; DNA damage ; gene ; kinase ; metaphase ; microcephaly ; neurological ; phosphorylation ; prophase ; protein ; recessive ; short stature ; stature ; syndrome ; transcript

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.

See also Understanding Medical Terminology.

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook.

 
Published: July 21, 2014