产品类型
重组兔单抗、病理级抗体、mIHC精品抗体
英文名称
TTF1/NKX2-1 Recombinant Rabbit mAb
英文别名
BCH; BHC; NK-2; NKX2.1; NKX2A; NMTC1; T/EBP; TEBP; TITF1; TTF-1; TTF1; NKX21_HUMAN; NKX2-1; Homeobox protein NK-2 homolog A; Thyroid nuclear factor 1; Thyroid transcription factor 1 (TTF-1); Thyroid-specific enhancer-binding protein (T/EBP); NKX21_MOUSE; Nkx-2.1; NKX21_RAT; NK2 homeobox 1; benign chorea; thyroid transcription factor 1
免疫原
A synthesized peptide derived from human Nkx 2.1: 1-150
纯化方法
affinity purified by Protein A
储存液
0.01M TBS (pH7.4) with 1% BSA, 0.02% Proclin300 and 50% Glycerol.
保存条件
Shipped at 4℃. Store at -20℃ for one year. Avoid repeated freeze/thaw cycles.
注意事项
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
产品介绍
结合并激活甲状腺特异性基因(如甲状腺球蛋白,甲状腺过氧化物酶和促甲状腺激素受体)启动子的转录因子;对于维持甲状腺分化表型至关重要;可能在肺部发育和表面活性剂稳态中起作用;与GRHL2形成一个调节环,该环调节肺上皮细胞形态的发生和分化;抑制生物钟转录阻遏物NR1D1的转录等。
背景资料
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 'TFF1' with another gene, transcription termination factor 1, which plays a role in ribosomal gene transcription. [provided by RefSeq, Apr 2011]
蛋白名
Homeobox protein Nkx-2.1
组织特异性
Thyroid, lung and CNS. Expressed in restricted regions of the developing brain within the diencephalon, in parts of the hypothalamus and neurohypophysis, and in the telencephalon.
翻译后修饰
Phosphorylated on serine residues by STK3.
疾病
Chorea, hereditary benign (BHC) [MIM:118700]: 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. Note=The disease is caused by mutations affecting the gene represented in this entry.
Choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction (CAHTP) [MIM:610978]: 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. {ECO:0000269|PubMed:11854318, Note=The disease is caused by mutations affecting the gene represented in this entry.
相似性
Belongs to the NK-2 homeobox family.
Contains 1 homeobox DNA-binding domain.
功能
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.