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Genetics Home Reference: your guide to understanding genetic conditions
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Intermediate filaments type V, lamins gene family

Reviewed August 2013

What are the intermediate filaments type V, lamins genes?

The genes in this family provide instructions for making lamins, which are important structural proteins within cells. Lamins combine to form intermediate filaments. These filaments assemble into strong networks that are scaffolding (supporting) components of the nuclear envelope, which is a structure that surrounds the nucleus in cells. Specifically, lamins are located in the nuclear lamina, a mesh-like layer of intermediate filaments and other proteins that is attached to the inner membrane of the nuclear envelope. The nuclear envelope regulates the movement of molecules into and out of the nucleus, and researchers believe it may play a role in regulating the activity (expression) of certain genes.

Mutations in lamin genes cause a group of disorders known as laminopathies. Some mutations may weaken the nuclear envelope, making cells fragile and likely to die prematurely. It is possible that disruption of the nuclear envelope structure leads to abnormal regulation of gene activity or other cellular processes. It is unclear exactly how mutations in lamin genes are linked to the signs and symptoms of laminopathies.

Which genes are included in the intermediate filaments type V, lamins gene family?

The HUGO Gene Nomenclature Committee (HGNC) provides a list of genes in the intermediate filaments type V, lamins family (http://www.genenames.org/genefamilies/IF).

Genetics Home Reference summarizes the normal function and health implications of this member of the intermediate filaments type V, lamins gene family: LMNA.

What conditions are related to genes in the intermediate filaments type V, lamins gene family?

Genetics Home Reference includes these conditions related to genes in the intermediate filaments type V, lamins gene family:

  • Charcot-Marie-Tooth disease
  • Emery-Dreifuss muscular dystrophy
  • familial dilated cardiomyopathy
  • Hutchinson-Gilford progeria syndrome
  • limb-girdle muscular dystrophy
  • mandibuloacral dysplasia

Where can I find additional information about the intermediate filaments type V, lamins gene family?

You may find the following resources about the intermediate filaments type V, lamins gene family helpful.

  • Human Intermediate Filament Database (http://www.interfil.org/)
  • Madame Curie Bioscience Database (2000): Major Components of the Peripheral Nuclear Lamina (http://www.ncbi.nlm.nih.gov/books/NBK6125/)
  • The Cell: A Molecular Approach (second edition, 2000): Assembly of Intermediate Filaments (http://www.ncbi.nlm.nih.gov/books/NBK9834/)

What glossary definitions help with understanding the intermediate filaments type V, lamins gene family?

gene ; intermediate filaments ; lamin ; nuclear envelope ; nucleus

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://ghr.nlm.nih.gov/glossary).

References

These sources were used to develop the Genetics Home Reference summary for the intermediate filaments type V, lamins gene family.

  • Schreiber KH, Kennedy BK. When lamins go bad: nuclear structure and disease. Cell. 2013 Mar 14;152(6):1365-75. doi: 10.1016/j.cell.2013.02.015. Review. (http://www.ncbi.nlm.nih.gov/pubmed/23498943?dopt=Abstract)
  • Burke B, Stewart CL. The nuclear lamins: flexibility in function. Nat Rev Mol Cell Biol. 2013 Jan;14(1):13-24. doi: 10.1038/nrm3488. Epub 2012 Dec 5. Review. (http://www.ncbi.nlm.nih.gov/pubmed/23212477?dopt=Abstract)
  • Cortelli P, Terlizzi R, Capellari S, Benarroch E. Nuclear lamins: functions and clinical implications. Neurology. 2012 Oct 16;79(16):1726-31. doi: 10.1212/WNL.0b013e31826ea887. Review. (http://www.ncbi.nlm.nih.gov/pubmed/23071165?dopt=Abstract)

 

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? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: August 2013
Published: November 17, 2014