NKX2-1 Antibody – Rabbit Polyclonal

NKX2-1: 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. Defects in NKX2-1 are the cause of benign hereditary chorea (BHC); also known as hereditary chorea without dementia. BHC is an autosomal dominant movement disorder. The early onset of symptoms (usully before the age of 5) and the observation that in some BHC families the symptoms tend to decrease in adulthood suggests that the disorder results from a developmental disturbance of the brain. BHC is non-progressive and patients have normal or slightly below normal intelligence. There is considerable inter- and intrafamilial variability, including dysarthria, axial distonia and gait disturbances. Defects in NKX2-1 are the cause of choreoathetosis, hypothyroidism, and neonatal respiratory distress (CHNRD). This syndrome include neurological, thyroid, and respiratory problems. Belongs to the NK-2 homeobox family. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: DNA-binding; Transcription factor

Chromosomal Location of Human Ortholog: 14q13

Cellular Component: nucleoplasm; transcription factor complex; nucleus

Molecular Function: RNA polymerase II transcription factor activity, enhancer binding; protein binding; enzyme binding; DNA binding; sequence-specific DNA binding; transcription factor activity

Biological Process: transcription from RNA polymerase II promoter; axon guidance; positive regulation of transcription, DNA-dependent; rhythmic process; neuron migration; response to hormone stimulus; globus pallidus development; locomotory behavior; forebrain dorsal/ventral pattern formation; negative regulation of transcription from RNA polymerase II promoter; positive regulation of circadian rhythm; Leydig cell differentiation; phospholipid metabolic process; forebrain development; thyroid gland development; oligodendrocyte differentiation; anatomical structure formation; forebrain neuron fate commitment; negative regulation of cell migration; hippocampus development; induction; cerebral cortex GABAergic interneuron differentiation; cerebral cortex cell migration; pituitary gland development; positive regulation of transcription from RNA polymerase II promoter; brain development; negative regulation of transcription, DNA-dependent; negative regulation of transforming growth factor beta receptor signaling pathway; endoderm development; lung development

Disease: Thyroid Carcinoma, Papillary; Chorea, Benign Hereditary; Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction