Search for a gene
NKX2-1 - NK2 homeobox 1
- Synonym(s) : TTF1, TTF-1
- Previous symbols and names : BCH, NKX2A, TITF1, Thyroid transcription factor 1, benign chorea, thyroid transcription factor 1
- Type : gene with protein product
- Chromosomal location : 14q13.3
- OMIM: 600635
- HGNC: 11825
- UniProtKB: P43699
- Genatlas: NKX2-1
- GenCC: NKX2-1
- Ensembl: ENSG00000136352
- IUPHAR-DB: -
- Reactome: P43699
- LOVD: NKX2-1
Diseases list
- Disease-causing germline mutation(s) in Benign hereditary chorea
ORPHA:1429 
- Disease-causing germline mutation(s) in Brain-lung-thyroid syndrome
ORPHA:209905 - Major susceptibility factor in Differentiated thyroid carcinoma
ORPHA:146 - Candidate gene tested in Athyreosis
ORPHA:95713
: AssessedAdditional information
Patient-centred resources for this gene
Research activities on this gene
Specialised Social Services
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.
Orphanet is part of the Gene Curation Coalition, a global effort to harmonise gene-level resources.