LMX1B

LIM homeobox transcription factor 1 beta

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.

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.

Cytogenetic Location: 9q33.3, which is the long (q) arm of chromosome 9 at position 33.3

Molecular Location: base pairs 126,614,443 to 126,701,032 on chromosome 9 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 9q33.3, which is the long (q) arm of chromosome 9 at position 33.3
  • LIM homeo box transcription factor 1, beta
  • LIM homeobox transcription factor 1, beta
  • LMX1.2
  • LMX1B_HUMAN
  • MGC138325
  • MGC142051
  • NPS1