Identity
HGNC
LOCATION
17p12
LOCUSID
ALIAS
2010204O13Rik,MC3DN2
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 54902
MIM: 613814
HGNC: 26006
Ensembl: ENSG00000011295
Variants:
dbSNP: 54902
ClinVar: 54902
TCGA: ENSG00000011295
COSMIC: TTC19
RNA/Proteins
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 33066754 | 2020 | Integrated genomics analysis highlights important SNPs and genes implicated in moderate-to-severe asthma based on GWAS and eQTL datasets. | 10 |
| 33066754 | 2020 | Integrated genomics analysis highlights important SNPs and genes implicated in moderate-to-severe asthma based on GWAS and eQTL datasets. | 10 |
| 28673544 | 2017 | TTC19 Plays a Husbandry Role on UQCRFS1 Turnover in the Biogenesis of Mitochondrial Respiratory Complex III. | 33 |
| 28673544 | 2017 | TTC19 Plays a Husbandry Role on UQCRFS1 Turnover in the Biogenesis of Mitochondrial Respiratory Complex III. | 33 |
| 25887401 | 2015 | Mutations in TTC19: expanding the molecular, clinical and biochemical phenotype. | 10 |
| 25899669 | 2015 | Phenotypic variation of TTC19-deficient mitochondrial complex III deficiency: a case report and literature review. | 13 |
| 25887401 | 2015 | Mutations in TTC19: expanding the molecular, clinical and biochemical phenotype. | 10 |
| 25899669 | 2015 | Phenotypic variation of TTC19-deficient mitochondrial complex III deficiency: a case report and literature review. | 13 |
| 24397319 | 2014 | Exome sequencing reveals a novel TTC19 mutation in an autosomal recessive spinocerebellar ataxia patient. | 20 |
| 24397319 | 2014 | Exome sequencing reveals a novel TTC19 mutation in an autosomal recessive spinocerebellar ataxia patient. | 20 |
| 23532514 | 2013 | Novel TTC19 mutation in a family with severe psychiatric manifestations and complex III deficiency. | 23 |
| 23532514 | 2013 | Novel TTC19 mutation in a family with severe psychiatric manifestations and complex III deficiency. | 23 |
| 21278747 | 2011 | Mutations in TTC19 cause mitochondrial complex III deficiency and neurological impairment in humans and flies. | 68 |
| 21278747 | 2011 | Mutations in TTC19 cause mitochondrial complex III deficiency and neurological impairment in humans and flies. | 68 |
| 20877624 | 2010 | Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. | 20 |
Citation
Dessen P
TTC19 (tetratricopeptide repeat domain 19)
Atlas Genet Cytogenet Oncol Haematol. 2014-08-01
Online version: http://atlasgeneticsoncology.org/gene/54732/ttc19-(tetratricopeptide-repeat-domain-19)
