TTC19 (tetratricopeptide repeat domain 19)

2014-08-01  

Identity

HGNC
LOCATION
17p12
LOCUSID
ALIAS
2010204O13Rik,MC3DN2
FUSION GENES

Other Information

Locus ID:

NCBI: 54902
MIM: 613814
HGNC: 26006
Ensembl: ENSG00000011295

Variants:

dbSNP: 54902
ClinVar: 54902
TCGA: ENSG00000011295
COSMIC: TTC19

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000011295ENST00000261647Q6DKK2
ENSG00000011295ENST00000261647A0A024RD83
ENSG00000011295ENST00000466729K7ELX2
ENSG00000011295ENST00000470399K7EJA1
ENSG00000011295ENST00000470649K7EKH7
ENSG00000011295ENST00000475723K7EKS0
ENSG00000011295ENST00000578103K7ERR1

Expression (GTEx)

0
10
20
30
40
50
60
70

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
212787472011Mutations in TTC19 cause mitochondrial complex III deficiency and neurological impairment in humans and flies.44
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17
235325142013Novel TTC19 mutation in a family with severe psychiatric manifestations and complex III deficiency.12
286735442017TTC19 Plays a Husbandry Role on UQCRFS1 Turnover in the Biogenesis of Mitochondrial Respiratory Complex III.12
243973192014Exome sequencing reveals a novel TTC19 mutation in an autosomal recessive spinocerebellar ataxia patient.10
258874012015Mutations in TTC19: expanding the molecular, clinical and biochemical phenotype.6
258996692015Phenotypic variation of TTC19-deficient mitochondrial complex III deficiency: a case report and literature review.4

Citation

Dessen P

TTC19 (tetratricopeptide repeat domain 19)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01

Online version: http://atlasgeneticsoncology.org/gene/54732/ttc19