LMX1B
LMX1B is a protein that in humans is encoded by the LMX1B gene. This gene is a member of the LIM homeobox family and encodes a protein with two tandemly repeated homeobox domains. This protein is thought to play a role in anatomical structure development and is involved in the development of the roofs of the midbrain and forebrain.
Function[edit | edit source]
The LMX1B protein is a transcription factor, which means it helps control the activity of certain genes. It is involved in the development of several types of cells, including neurons in the brain and spinal cord, kidney cells, and cells that make up the nails and eyes.
Clinical significance[edit | edit source]
Mutations in the LMX1B gene are associated with Nail-patella syndrome, a genetic disorder characterized by abnormalities of the nails, knees, elbows, and pelvis.
Genetics[edit | edit source]
The LMX1B gene is located on the long (q) arm of chromosome 9 at position 34, from base pair 129,685,523 to base pair 129,727,224.
See also[edit | edit source]
References[edit | edit source]
External links[edit | edit source]
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Contributors: Prab R. Tumpati, MD
