基因名称(Gene Name)
NKX2-1 NKX2A TITF1 TTF1
蛋白名称
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 hom
免疫原
Synthesized peptide derived from human TTF1
特异性
The antibody can specifically recognize human TTF1 protein.
组成
PBS, pH7.2, 0.03% Porcolin 300, containing stabilizing protein
来源
Mouse, Monoclonal/IgG1, Kappa
稀释比例
IHC-p 1:200-400, WB 1:200-1000,
纯化工艺
The antibody was affinity-purified from mouse ascites by affinity-chromatography using specific immunogen.
其他名称
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
背景
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. [provided by RefSeq, Feb 2014],
功能
disease:Defects in NKX2-1 are the cause of benign hereditary chorea (BHC) [MIM:118700]; 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.,disease:Defects in NKX2-1 are the cause of choreoathetosis, hypothyroidism, and neonatal respiratory distress (CHNRD) [MIM:610978]. This syndrome include neurological, thyroid, and respiratory problems.,function:Transcription factor that binds and activates the promoter of thyro
