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.
How are changes in the LMX1B gene related to health conditions?
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nail-patella syndrome - caused by mutations in the LMX1B gene
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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: 9q34
Molecular Location on chromosome 9: base pairs 128,416,618 to 128,498,550
The LMX1B gene is located on the long (q) arm of chromosome 9 at position 34.
More precisely, the LMX1B gene is located from base pair 128,416,618 to base pair 128,498,550 on chromosome 9.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about LMX1B?
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
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 LMX1B?
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.
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