The NKX2-1 gene provides instructions for making a protein called homeobox protein Nkx-2.1, which is a member of the homeobox protein family. Homeobox proteins direct the formation of body structures during early embryonic development. Homeobox protein Nkx-2.1 is particularly involved in the development and function of the brain, lungs, and thyroid gland. The thyroid is a butterfly shaped gland in the lower neck that makes hormones to help regulate a wide variety of critical body functions, including growth and brain development.
Homeobox protein Nkx-2.1 functions as a transcription factor, which means it attaches to DNA and controls the activity (expression) of other genes. In the brain, homeobox protein Nkx-2.1 regulates genes that play a role in the development and movement (migration) of specialized nerve cells (neurons), called interneurons, to their proper location. Interneurons relay signals between other neurons. In the lungs, homeobox protein Nkx-2.1 controls development of lung structures and regulates the expression of surfactant genes, which provide instructions for producing surfactant proteins. Together with certain fats, these proteins form surfactant, which lines the lung tissue and makes breathing easy. In the thyroid gland, homeobox protein Nkx-2.1 controls genes that are critical in the production of thyroid hormones.
Other Names
BCH; BHC; homeobox protein NK-2 homolog A; homeobox protein Nkx-2.1 isoform 1; homeobox protein Nkx-2.1 isoform 2; NK-2; NK-2 homolog A; NKX2.1; NKX2A; NMTC1; T/EBP; TEBP; thyroid nuclear factor 1; thyroid transcription factor 1; thyroid-specific enhancer-binding protein; TITF1; TTF-1; TTF1
Related Genetics Topics
Identifiers
- NCBI Gene: 7080
- OMIM: 600635
Source: MedlinePlus Genetics, U.S. National Library of Medicine.
