甲状腺核转录因子-1重组兔单抗

NKX2-1

Homeobox protein Nkx-2.1

Nucleus.

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.

Phosphorylated on serine residues by STK3.

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.

Belongs to the NK-2 homeobox family.
Contains 1 homeobox DNA-binding domain.

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.