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Tetratricopeptide repeat domain 19

This gene encodes a protein with a tetratricopeptide repeat (TPR) domain containing several TPRs of about 34 aa each. These repeats are found in a variety of organisms including bacteria, fungi and plants, and are involved in a variety of functions including protein-protein interactions. The exact function of this protein is not known. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2011] (from NCBI)
Top mentioned proteins: AGE, HAD, UQCRC2, CAN, p22
Papers on TTC19
Both PIGA and PIGL mutations cause GPI-a deficient isolates in the Tk6 cell line.
Albertini et al., Burlington, United States. In Environ Mol Mutagen, Oct 2015
Further analysis determined these isolates had several different homozygous deletions of the 5' region of PIGL (17p12-p22) extending 5' (telomeric) through NCOR1 and some into the TTC19 gene (total deletion >250,000 bp).
Phenotypic variation of TTC19-deficient mitochondrial complex III deficiency: a case report and literature review.
Yu et al., Adelaide, Australia. In Am J Med Genet A, Jun 2015
It has been associated with mutations in MT-CYB, the only mitochondrial DNA encoded subunit, as well as in nine nuclear genes described thus far: BCS1L, TTC19, UQCRB, UQCRQ, UQCRC2, CYC1, UQCC2, LYRM7, and UQCC3.
A Japanese case of cerebellar ataxia, spastic paraparesis and deep sensory impairment associated with a novel homozygous TTC19 mutation.
Tanaka et al., Yokohama, Japan. In J Hum Genet, Apr 2015
TTC19 mutations constitute a rare cause of CIII deficiency and are associated with neurological disorders in childhood and adulthood.
Mitochondrial Complex III Deficiency Caused by TTC19 Defects: Report of a Novel Mutation and Review of Literature.
Moroni et al., Milano, Italy. In Jimd Rep, 2014
Sequencing of a panel containing nuclear genes associated with cIII deficiency revealed a previously undescribed homozygous rearrangement (c.782_786delinsGAAAAG) in TTC19 gene, which results in a frameshift with premature termination (p.Glu261Glyfs(*)8).
Mutations in TTC19: expanding the molecular, clinical and biochemical phenotype.
Maier et al., Salzburg, Austria. In Orphanet J Rare Dis, 2014
BACKGROUND: TTC19 deficiency is a progressive neurodegenerative disease associated with isolated mitochondrial respiratory chain (MRC) complex III deficiency and loss-of-function mutations in the TT19 gene in the few patients reported so far.
Exome sequencing reveals a novel TTC19 mutation in an autosomal recessive spinocerebellar ataxia patient.
Kawakami et al., Hiroshima, Japan. In Bmc Neurol, 2013
RESULTS: After these manipulations, we identified a homozygous nonsense mutation of the TTC19 gene (p.Q277*).
Mutations in the Complex III Assembly Factor Tetratricopeptide 19 Gene TTC19 Are a Rare Cause of Leigh Syndrome.
Atwal, Stanford, United States. In Jimd Rep, 2013
We report a patient with Leigh syndrome shown to have two previously undescribed truncating mutations in the TTC19 gene.
A novel mutation in TTC19 associated with isolated complex III deficiency, cerebellar hypoplasia, and bilateral basal ganglia lesions.
Ghezzi et al., Milano, Italy. In Front Genet, 2013
Isolated complex III (cIII) deficiency is a rare biochemical finding in mitochondrial disorders, mainly associated with mutations in mitochondrial DNA MTCYB gene, encoding cytochrome b, or in assembly factor genes (BCS1L, TTC19, UQCC2, and LYRM7), whereas mutations in nuclear genes encoding cIII structural subunits are extremely infrequent.
Novel TTC19 mutation in a family with severe psychiatric manifestations and complex III deficiency.
Santorelli et al., Porto, Portugal. In Neurogenetics, 2013
Recently, mutations in the human tetratricopeptide 19 gene (TTC19) have been involved in the etiology of CIII deficiency through impaired assembly of the holocomplex.
Mitochondrial complex III deficiency caused by a homozygous UQCRC2 mutation presenting with neonatal-onset recurrent metabolic decompensation.
Matsumoto et al., Yokohama, Japan. In Hum Mutat, 2013
Abnormalities of the nuclear genes such as BCS1L and TTC19 encoding mitochondrial assembly factors are well known, but an explanation of the majority of CIII deficiency remains elusive.
Mutations in TTC19 cause mitochondrial complex III deficiency and neurological impairment in humans and flies.
Zeviani et al., Milano, Italy. In Nat Genet, 2011
TTC19 is a putative cIII assembly factor whose disruption is associated with severe neurological abnormalities in humans and flies.
PtdIns(3)P controls cytokinesis through KIF13A-mediated recruitment of FYVE-CENT to the midbody.
Stenmark et al., Oslo, Norway. In Nat Cell Biol, 2010
We show that PtdIns(3)P localizes to the midbody during cytokinesis and recruits a centrosomal protein, FYVE-CENT (ZFYVE26), and its binding partner TTC19, which in turn interacts with CHMP4B, an endosomal sorting complex required for transport (ESCRT)-III subunit implicated in the abscission step of cytokinesis.
A reassessment of the role of breast tumor aromatization.
Bradlow, In Cancer Res, 1982
Using the reported values for the concentration of C19 steroid precursors and the rho TTC19-E2 values one can estimate that the contribution of in situ aromatization to the tumor estrogen pool is quite small.
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