NKX2-1 Recombinant Monoclonal Antibody

Uniprot Id

P43699

Target Species

Human

Target Name

NKX2-1

Target Full Name

Homeobox protein Nkx-2.1

Target 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.

Target Involvement

Chorea, hereditary benign (BHC); Choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction (CAHTP); Thyroid cancer, non-medullary, 1 (NMTC1)

Target Subcellular Location

Nucleus.

Target Protein Families

NK-2 homeobox family

Target Tissue Specificity

Thyroid and lung.

Target Research Area

Epigenetics and Nuclear Signaling

Target Synonyms

AV026640; BCH; Benign chorea ; BHC; Homeobox protein NK 2 homolog A; Homeobox protein NK-2 homolog A; Homeobox protein Nkx 2.1; Homeobox protein Nkx-2.1; Homeobox protein Nkx2.1; NK 2; NK 2 homolog A; NK2; NK2 homeobox 1; NK2; drosophila; homolog of; A; NK2.1; mouse; homolog of; Nkx 2 1; NKX 2.1; NKX 2A; NKX2 1; Nkx2-1; NKX2.1; NKX21_HUMAN; NKX2A; T EBP; T/EBP; TEBP; Thyroid nuclear factor 1; Thyroid nuclear factor; Thyroid specific enhancer binding protein; Thyroid transcription factor 1; Tin man; Tinman; TITF 1; TITF1; TTF 1; TTF-1; TTF1

Target Background

This gene encodes a protein initially identified as a thyroid-specific transcription factor. The encoded protein binds to the thyroglobulin promoter and regulates the expression of thyroid-specific genes but has also been shown to regulate the expression of genes involved in morphogenesis. Mutations and deletions in this gene are associated with benign hereditary chorea, choreoathetosis, congenital hypothyroidism, and neonatal respiratory distress, and may be associated with thyroid cancer. Multiple transcript variants encoding different isoforms have been found for this gene. This gene shares the symbol/alias 'TTF1' with another gene, transcription termination factor 1, which plays a role in ribosomal gene transcription.