NKX2-1
GeneName
NKX2-1
Summary
NKX2-1, also known as TTF-1 or thyroid transcription factor 1, is a 39 kDa transcription factor primarily expressed in the thyroid gland, lung, and brain. It plays a crucial role in the regulation of gene expression during organ development, particularly in the formation of the thyroid and lung. NKX2-1 is involved in various biological processes, including brain development, cell differentiation, and morphogenesis, by binding to specific DNA sequences in the regulatory regions of target genes. It is localised to the nucleus and participates in transcription regulation, influencing both positive and negative transcriptional activities, particularly in relation to RNA polymerase II.
Importance
NKX2-1 is relevant to: - Developmental biology, particularly in understanding organogenesis and differentiation processes in the thyroid and lungs. - Neurological research, as it is implicated in brain development and interneuron differentiation, influencing neuronal circuit formation. - Lung diseases, including congenital disorders and chronic respiratory conditions, due to its essential role in lung morphogenesis and function. - Cancer research, as mutations or dysregulation of NKX2-1 have been associated with various cancers, including lung and thyroid malignancies.
Top Products
For researchers investigating NKX2-1, we highly recommend the top-selling recombinant antibody, Anti-TTF1/Nkx2-1 antibody [EP1584Y] (ab76013). This well-cited antibody has garnered 233 citations, reflecting its strong reputation in the field. It has been validated for use in immunohistochemistry (IHC) and western blotting (WB), making it an excellent choice for a variety of experimental needs. The recombinant nature of this antibody ensures batch-to-batch consistency, providing reliable results for your NKX2-1 studies.
Abcam Product Citation Summary
The data indicates that NKX2-1 is being studied in various contexts related to lung cancer and lung tissue differentiation. The use of antibodies in both mouse and human tissues highlights the relevance of NKX2-1 in understanding tumour markers, epithelial cell lineage, and the differentiation of stem cells into lung epithelial cells. This suggests a significant role for NKX2-1 in lung biology and pathology.
Abcam Product Citation Table
Function
Transcription factor that binds and activates the promoter of thyroid specific genes such as thyroglobulin, thyroperoxidase, and thyrotropin receptor. Crucial in the maintenance of the thyroid differentiation phenotype. May play a role in lung development and surfactant homeostasis. Forms a regulatory loop with GRHL2 that coordinates lung epithelial cell morphogenesis and differentiation. Activates the transcription of GNRHR and plays a role in enhancing the circadian oscillation of its gene expression. Represses the transcription of the circadian transcriptional repressor NR1D1 (By similarity).
Involvement in disease
Chorea, hereditary benign
BHC
A rare autosomal dominant movement disorder, defined by early onset in childhood, a stable or non-progressive course of chorea, and no mental deterioration. Chorea is characterized by involuntary, forcible, rapid, jerky movements that may be subtle or become confluent, markedly altering normal patterns of movement.
None
The disease is caused by variants affecting the gene represented in this entry.
Choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction
CAHTP
An autosomal dominant disorder that manifests in infancy with neurological disturbances, hypothyroidism, and respiratory problems. It is characterized by movement abnormalities beginning with muscular hypotonia followed by the development of chorea, athetosis, dystonia, ataxia, and dysarthria.
None
The disease is caused by variants affecting the gene represented in this entry.
Thyroid cancer, non-medullary, 1
NMTC1
A form of non-medullary thyroid cancer (NMTC), a cancer characterized by tumors originating from the thyroid follicular cells. NMTCs represent approximately 95% of all cases of thyroid cancer and are classified into papillary, follicular, Hurthle cell, and anaplastic neoplasms.
None
Disease susceptibility is associated with variants affecting the gene represented in this entry.
Post-translational modifications
Phosphorylated on serine residues by STK3/MST2.
Sequence Similarities
Belongs to the NK-2 homeobox family.
Tissue Specificity
Thyroid and lung.
Cellular localization
- Nucleus
Alternative names
NKX2A, TITF1, TTF1, NKX2-1, Homeobox protein Nkx-2.1, Homeobox protein NK-2 homolog A, Thyroid nuclear factor 1, Thyroid transcription factor 1, Thyroid-specific enhancer-binding protein, TTF-1, T/EBP