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
分子量： 41kD
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 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.,PTM:Phosphorylated on serine residues.,similarity:Belongs to the NK-2 homeobox family.,similarity:Contains 1 homeobox DNA-binding domain.,tissue specificity:Thyroid and lung.,
相关产品： YM6697R,RS0001,RS0002,YM3028,YM3029
细胞定位： Nuclear
组织表达： Thyroid/ Lung
tag： hot
科研货号： PLD000237
TTF1 (ABT237) Mouse mAb
Catalog NoPLD000237
Product information
基因名称： 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 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
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
分子量： 41kD
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 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.,PTM:Phosphorylated on serine residues.,similarity:Belongs to the NK-2 homeobox family.,similarity:Contains 1 homeobox DNA-binding domain.,tissue specificity:Thyroid and lung.,
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