Ask about this productRelated genes to: TTC19 Blocking Peptide
- Gene:
- TTC19 NIH gene
- Name:
- tetratricopeptide repeat domain 19
- Previous symbol:
- -
- Synonyms:
- FLJ20343, MGC19520
- Chromosome:
- 17p12
- Locus Type:
- gene with protein product
- Date approved:
- 2004-08-27
- Date modifiied:
- 2016-10-05
Related products to: TTC19 Blocking Peptide
Related articles to: TTC19 Blocking Peptide
- Isolated mitochondrial complex III deficiency can result from pathogenic variants in several nuclear or mitochondrial genes, encoding structural subunits or assembly factors of the enzyme. It is a rare cause of mitochondrial phenotypes with clinically heterogeneous presentations. Pathogenic variants in the Tetratricopeptide Repeat Domain 19 (TTC19) gene have been identified as a cause of mitochondrial complex III deficiency, nuclear type 2 (MIM #615157). We report 10 patients from five unrelated Arab families, all presenting with variable severity of a progressive neurodegenerative disorder characterized by loss of ambulation, speech impairment, and cognitive regression. Long-term clinical follow-up, supported by serial neuroradiological imaging, demonstrated progressive disease evolution, further highlighting the degenerative nature of the condition. In this cohort, exome sequencing (ES) identified three distinct pathogenic variants in the TTC19 gene across the five unrelated families, highlighting both genetic heterogeneity and regional clustering. In a Saudi family, A novel in-frame TTC19 variant NM_017775.4:c.680_709del; p.(Glu227_Leu236del) was identified, resulting in the loss of 10 amino acids in the protein. The second variant, NM_017775.4:c.779_780del; p.(Tyr260*), is a frameshift deletion leading to truncation of the TTC19 protein. This recurrent variant was identified in three independent Syrian families (Families 2, 3, and 4). The third variant, NM_017775.4:c.153_156del; p.(Arg52Alafs*48), also a frameshift variant, was detected in a fifth family of Kuwaiti origin. These loss of function TTC19 variants are proposed to underlie the observed phenotypes, as supported by mitochondrial functional studies, and contribute to the expanding spectrum of TTC19-related disorders, with specific variants recurring in particular regional or ethnic populations. - Source: PubMed
Publication date: 2026/03/09
Alghamdi MalakAlahmad AhmadAlaboudi MalakAlsheikh SulaimanAlanazy Mohammed HAlbash ButhainaAlaqeel AhmadAlmontashiri Naif AJamjoom DimaBashiri Fahad AHamad Muddathir HAli Hebatallah HAlwatidi MohammedAlharbi EssaOmar SheriefMarafi DanaAlabdulrazzaq FatimaArold Stefan TMcFarland RobertW Taylor Robert - Chromosome instability (CIN) remains among the most important problems in modern cancer research. In this study, we conducted a genome-wide RNAi screen to identify genes that contribute to CIN. To achieve this, we used a human artificial chromosome in a novel sensitized screen to measure CIN. We screened 18,658 genes for their roles in maintaining chromosomal stability and identified 834 candidates as potential CIN genes. A secondary RNAi screen identified 44 genes with the most pronounced CIN phenotypes. In guilt-by-association analysis using a published set of 8,498 proteins across a panel of 949 cancer cell lines, this cohort of 44 genes displayed a striking correlation with mitotic regulators. Furthermore, altered expression of these proteins was associated with a poor prognosis across multiple cancer types. Specifically, downregulation of AMY2B, ALAD, PDGFRA, PPIE, VEZ1, and TTC19 is associated with poor survival in two or more of the following: small cell lung cancer, lung adenocarcinoma, adrenocortical carcinoma, ovarian cancer, and breast cancer. The genes identified in this screen hold potential as prognostic markers for patient survival across several cancer types and could potentially serve as targets for the development of new therapeutic approaches aimed at mitigating CIN. - Source: PubMed
Publication date: 2025/12/17
Liskovykh MikhailKochanova Natalia YChiang Chih-YuanDhall AnjaliAksenova VasilisaChen Yu-ChiReinhold William CDasso MaryThomas AnishCheng Ken Chih-ChienPommier YvesEarnshaw William CLarionov VladimirKouprina Natalay - - Source: PubMed
Messina Christian - TTC19 encodes a mitochondrial protein involved in the assembly of complex III of the respiratory chain. Biallelic pathogenic variants cause a rare mitochondrial disorder typically associated with cerebellar ataxia, neuropsychiatric symptoms, and characteristic brain MRI findings within the Leigh syndrome spectrum. Peripheral motor involvement has been described in a minority of cases but has rarely been documented with detailed neurophysiological data. We report a novel TTC19 variant in a patient presenting with a distinctive combination of central and peripheral motor involvement. - Source: PubMed
Mandia DanieleBenoit CharlineStojkovic TanyaNadjar Yann - Clinical studies reveal bidirectional links between sarcopenia (SP) and diabetic nephropathy (DN). Damage to mitochondria in DN may result in diminished energy production, which consequently triggers SP. Consequently, mitochondria seem to function as critical nodes connecting DN with SP. The objective of this research was to pinpoint biomarkers associated with mitochondrial dysfunction in DN and SP. - Source: PubMed
Publication date: 2025/07/09
Chen Yi WeiHe ShanWang YuHu Lian YingChen Qin KaiLiu Si Yi