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Rabbit Anti-TTF1/FITC Conjugated antibody
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 'TFF1' with another gene, transcription termination factor 1, which plays a role in ribosomal gene transcription. [provided by RefSeq, Apr 2011]
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.
Subcellular Location:
Nucleus.
Tissue Specificity:
Thyroid and lung.
Post-translational modifications:
Phosphorylated on serine residues by STK3.
DISEASE:
Chorea, hereditary benign (SHC) [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.
Similarity:
Belongs to the NK-2 homeobox family.
Contains 1 homeobox DNA-binding domain.
Database links:
Entrez Gene: 7080 Human
Entrez Gene: 21869 Mouse
Entrez Gene: 25628 Rat
Omim: 600635 Human
SwissProt: P43699 Human
SwissProt: P50220 Mouse
SwissProt: P23441 Rat
Unigene: 94367 Human
Unigene: 89972 Mouse
Unigene: 34265 Rat
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
同源结构域蛋白（Homeodomain Proteins）
TTF-1存在于肺和大脑的一些区域内；包括垂体，甲状旁腺和甲状腺旁细胞中也有表达。
TTF-1有调节甲状腺、肺和大脑的基因表达的功能。它在甲状腺中的分子靶点是甲状腺球蛋白、促甲状腺素受体和甲状腺过氧化酶。 TTF1在肺腺癌和肺神经内分泌肿瘤（包括有肺小细胞癌）中是较好的标记物之一。其特异性和敏感性都很高，可以用于区分肺原发性、继发性腺癌、小部分胃肠道腺癌等。
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