基因名:
NKX2-1
产品别名:
BCH; BHC; NK-2; NKX2.1; NKX2A; NMTC1; T/EBP; TEBP; TITF1; TTF-1; TTF1; NKX2-1; NK2 homeobox 1; NK2 homeobox 1; homeobox protein Nkx-2.1; NK-2 homolog A; homeobox protein NK-2 homolog A; thyroid nuclear factor 1; thyroid transcription factor 1; thyroid-specific enhancer-binding protein; 甲状腺核转录因子-1; 甲状腺转录因子1(TITF1);
背景信息:
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]