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Genetics Home Reference: your guide to understanding genetic conditions
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LMX1B

Reviewed May 2008

What is the official name of the LMX1B gene?

The official name of this gene is “LIM homeobox transcription factor 1, beta.”

LMX1B is the gene's official symbol. The LMX1B gene is also known by other names, listed below.

What is the normal function of the LMX1B gene?

The LMX1B gene provides instructions for producing a protein that attaches (binds) to specific regions of DNA and regulates the activity of other genes. On the basis of this role, the LMX1B protein is called a transcription factor. The LMX1B protein appears to be particularly important during early embryonic development of the limbs, kidneys, and eyes.

Does the LMX1B gene share characteristics with other genes?

The LMX1B gene belongs to a family of genes called homeobox (homeoboxes).

A gene family is a group of genes that share important characteristics. Classifying individual genes into families helps researchers describe how genes are related to each other. For more information, see What are gene families? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genefamilies) in the Handbook.

How are changes in the LMX1B gene related to health conditions?

nail-patella syndrome - caused by mutations in the LMX1B gene

At least 145 mutations in the LMX1B gene have been found to cause nail-patella syndrome. Most mutations result in the production of an abnormally short, nonfunctional version of the LMX1B protein or change a single protein building block (amino acid). Mutations that substitute one amino acid for another amino acid reduce or eliminate the protein's ability to bind to DNA, disrupting the regulation of other genes during early development. Deletions of the entire LMX1B gene or large portions of the gene have also been shown to cause nail patella syndrome. It is unclear exactly how mutations in the LMX1B gene lead to the signs and symptoms of nail-patella syndrome.

Where is the LMX1B gene located?

Cytogenetic Location: 9q33.3

Molecular Location on chromosome 9: base pairs 126,614,442 to 126,701,031

The LMX1B gene is located on the long (q) arm of chromosome 9 at position 33.3.

The LMX1B gene is located on the long (q) arm of chromosome 9 at position 33.3.

More precisely, the LMX1B gene is located from base pair 126,614,442 to base pair 126,701,031 on chromosome 9.

See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.

Where can I find additional information about LMX1B?

You and your healthcare professional may find the following resources about LMX1B 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 LMX1B gene or gene products?

  • LIM homeo box transcription factor 1, beta
  • LMX1.2
  • LMX1B_HUMAN
  • MGC138325
  • MGC142051
  • NPS1

See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What glossary definitions help with understanding LMX1B?

amino acid ; DNA ; embryonic ; gene ; homeobox ; patella ; protein ; syndrome ; transcription ; transcription factor

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

References

  • Bongers EM, de Wijs IJ, Marcelis C, Hoefsloot LH, Knoers NV. Identification of entire LMX1B gene deletions in nail patella syndrome: evidence for haploinsufficiency as the main pathogenic mechanism underlying dominant inheritance in man. Eur J Hum Genet. 2008 Oct;16(10):1240-4. doi: 10.1038/ejhg.2008.83. Epub 2008 Apr 16. (http://www.ncbi.nlm.nih.gov/pubmed/18414507?dopt=Abstract)
  • Bongers EM, Huysmans FT, Levtchenko E, de Rooy JW, Blickman JG, Admiraal RJ, Huygen PL, Cruysberg JR, Toolens PA, Prins JB, Krabbe PF, Borm GF, Schoots J, van Bokhoven H, van Remortele AM, Hoefsloot LH, van Kampen A, Knoers NV. Genotype-phenotype studies in nail-patella syndrome show that LMX1B mutation location is involved in the risk of developing nephropathy. Eur J Hum Genet. 2005 Aug;13(8):935-46. (http://www.ncbi.nlm.nih.gov/pubmed/15928687?dopt=Abstract)
  • Dunston JA, Hamlington JD, Zaveri J, Sweeney E, Sibbring J, Tran C, Malbroux M, O'Neill JP, Mountford R, McIntosh I. The human LMX1B gene: transcription unit, promoter, and pathogenic mutations. Genomics. 2004 Sep;84(3):565-76. (http://www.ncbi.nlm.nih.gov/pubmed/15498463?dopt=Abstract)
  • Gene Review: Nail-Patella Syndrome (http://www.ncbi.nlm.nih.gov/books/NBK1132/)
  • NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/4010)
  • Sato U, Kitanaka S, Sekine T, Takahashi S, Ashida A, Igarashi T. Functional characterization of LMX1B mutations associated with nail-patella syndrome. Pediatr Res. 2005 Jun;57(6):783-8. Epub 2005 Mar 17. (http://www.ncbi.nlm.nih.gov/pubmed/15774843?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: May 2008
Published: July 7, 2014