Gene: SFTA3

Alternate names for this Gene:

Gene Summary:

Gene is located in Chromosome:

Location in Chromosome :

Description of this Gene:

Type of Gene:

Gene: NKX2-1

Alternate names for this Gene: BCH|BHC|NK-2|NKX2.1|NKX2A|NMTC1|T/EBP|TEBP|TITF1|TTF-1|TTF1

Gene Summary: 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 'TTF1' with another gene, transcription termination factor 1, which plays a role in ribosomal gene transcription.

Gene is located in Chromosome: 14

Location in Chromosome : 14q13.3

Description of this Gene: NK2 homeobox 1

Type of Gene: protein-coding

Gene: NKX2-1-AS1

Alternate names for this Gene: -

Gene Summary:

Gene is located in Chromosome: 14

Location in Chromosome : 14q13.3

Description of this Gene: NKX2-1 antisense RNA 1

Type of Gene: ncRNA

rs863225300 in SFTA3;NKX2-1;NKX2-1-AS1 gene and Choreoathetosis, Hypothyroidism, And Neonatal Respiratory Distress PMID 18788921 2008 A novel NKX2.1 mutation in a family with hypothyroidism and benign hereditary chorea.

rs1555349214 in SFTA3;NKX2-1;NKX2-1-AS1 gene and Movement Disorders PMID 24714694 2014 Comprehensive genotyping and clinical characterisation reveal 27 novel NKX2-1 mutations and expand the phenotypic spectrum.

PMID 23911641 2013 NKX2-1 mutation in a family diagnosed with ataxic dyskinetic cerebral palsy.

PMID 24930029 2014 A novel de novo mutation of the TITF1/NKX2-1 gene causing ataxia, benign hereditary chorea, hypothyroidism and a pituitary mass in a UK family and review of the literature.

PMID 28677170 2017 Inactivating mutations and hypermethylation of the NKX2-1/TTF-1 gene in non-terminal respiratory unit-type lung adenocarcinomas.

PMID 26196025 2015 Benign Hereditary Chorea: An Update.

PMID 7635972 1995 Congenital human thyroglobulin defect due to low expression of the thyroid-specific transcription factor TTF-1.

PMID 22832740 2012 Benign hereditary chorea: phenotype, prognosis, therapeutic outcome and long term follow-up in a large series with new mutations in the TITF1/NKX2-1 gene.

PMID 21292530 2011 Benign hereditary chorea: an update.

PMID 12891678 2003 Benign hereditary chorea: clinical, genetic, and pathological findings.

PMID 19336474 2009 Five new TTF1/NKX2.1 mutations in brain-lung-thyroid syndrome: rescue by PAX8 synergism in one case.

PMID 11854319 2002 Choreoathetosis, hypothyroidism, and pulmonary alterations due to human NKX2-1 haploinsufficiency.

PMID 15289765 2004 Autosomal dominant transmission of congenital hypothyroidism, neonatal respiratory distress, and ataxia caused by a mutation of NKX2-1.