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
- Mitochondrial dysfunction has been implicated in Parkinson's disease (PD), but the genetically regulated mitochondrial genes associated with PD risk remain incompletely defined. - Source: PubMed
Publication date: 2026/08/09
Zhu YushengYe Zihan - TTC19-related mitochondrial disease is a rare mitochondrial disorder of respiratory chain Complex III (CIII), typically associated with neurodegeneration and Leigh syndrome. However, its clinical presentation is variable, which complicates diagnosis and management. - Source: PubMed
Publication date: 2026/07/19
Bérat Claire-MarineBarcia GiuliaGaignard PaulineAssouline ZahraDe La Cruz ElisaFrançois-Heude Marie-CélineRoubertie AgatheCances ClaudeDufour LouisAlison MariannePatat OlivierTrimouille AurélienSaadi Samira Ait-El-MkademRötig AgnèsHully MarieRouzier CécileDesguerre IsabelleBoddaert NathalieSchiff Manuel - Mitochondrial complex III deficiency caused by pathogenic variants in TTC19 is a heterogeneous disorder typically presenting with progressive neurological involvement in late childhood. Early-onset of disease with predominant renal manifestations are uncommon and may complicate diagnosis. We report a child presenting with developmental delay, failure to thrive, lactic acidosis, and distal renal tubular acidosis (dRTA), raising suspicion of an underlying mitochondrial disorder. Whole exome sequencing (WES) analysis identified a homozygous intron-exon boundary deletion of 31 bp (c.463-19_474del) in TTC19 predicted to disrupt splicing, with functional evidence demonstrating aberrant transcript formation, reduced gene expression, and mitochondrial dysfunction in patient-derived fibroblasts. Based on the biochemical findings, re-analysis of exome data revealed a novel homozygous canonical splice-site variant (c.783-1G>A) in FMNL2. The splicing assay showed the skipping of exon 9, and reduced expression in the fibroblasts. This case expands the clinical spectrum of TTC19-related mitochondrial complex III deficiency with early-onset renal tubular acidosis. While TTC19 is the most plausible primary disease-causing gene, the functional disruption of FMNL2 suggests a potential contributory role or association with the renal phenotype. Hence, these findings highlight the importance of genomic re-analysis along with functional studies in resolving complex multisystem disorders. - Source: PubMed
Publication date: 2026/06/06
Jacob PrinceDeepha SekarHassan Akhila VasanthRao ShilpaSanthoshkumar RashmiVasudeva KanikaKapahtia SiddharthSharma MeenakshiNandeesh Bevinahalli NanjegowdaNagappa MadhuGovindaraj Periyasamy - Mitochondrial complex III deficiency nuclear type 2 (MC3DN2) is a rare inherited neurometabolic disease. A 34-year-old male had neuropsychiatric episodes, progressive cerebellar degeneration, myopathy, polyneuropathy, and brain stem and basal ganglion lesions since childhood. Muscle biopsy revealed mitochondrial abnormalities. Two novel TTC19 pathogenic variants were detected. - Source: PubMed
Publication date: 2026/05/07
Lan Shih-ChunChang Yung-YeeChen Shu-FangChen Ying-FaLan Min-Yu - 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