Ask about this productRelated genes to: CHCHD5 antibody
- Gene:
- CHCHD5 NIH gene
- Name:
- coiled-coil-helix-coiled-coil-helix domain containing 5
- Previous symbol:
- C2orf9
- Synonyms:
- MGC11104, MIC14, MIX14
- Chromosome:
- 2q14.1
- Locus Type:
- gene with protein product
- Date approved:
- 2002-01-29
- Date modifiied:
- 2017-07-07
Related products to: CHCHD5 antibody
Related articles to: CHCHD5 antibody
- Mutations in the peptidyl-tRNA hydrolase domain containing 1 (PTRHD1) gene have been recently identified in consanguineous Iranian and African families with juvenile parkinsonism and intellectual disability. However, the pathogenicity of PTRHD1 mutations in the disease and their role in young-onset Parkinson's disease (PD) remains unclear. We aimed to investigate PTRHD1 mutations in a Taiwanese cohort with young-onset and familial PD. We enrolled 464 participants, including 178 probands from PD pedigrees without known PD-causative gene mutations and 286 patients with young-onset PD (age of onset <50 years). All exons and exon-intron boundary junctions of PTRHD1 were analyzed by Sanger sequencing. We did not find any pathogenic coding variants or previously reported mutations, suggesting that PTRHD1 mutations are rare in young-onset and familial PD in our population. - Source: PubMed
Publication date: 2020/09/08
Chen Szu-JuHo Chang-HanLin Hang-YiLin Chin-HsienWu Ruey-Meei - Recently, we have reported the characterization of a novel protein named Coiled-coil Helix Tumor and Metabolism 1 (CHTM1). CHTM1 localizes to both cytosol and mitochondria. Sequence corresponding to CHTM1 is also annotated in the database as CHCHD5. CHTM1 is deregulated in human breast and colon cancers and its deficiency in human cancer cells leads to defective lipid metabolism and poor growth under glucose/glutamine starvation. - Source: PubMed
Publication date: 2019/06/20
Babbar MansiHuang YingCurtiss Christopher MSheikh M Saeed - The genetic bases of PD in sub-Saharan African (SSA) populations remain poorly characterized, and analysis of SSA families with PD might lead to the discovery of novel disease-related genes. - Source: PubMed
Publication date: 2018/11/06
Kuipers Demy J SCarr JonathanBardien SorayaThomas PearlSebate BoiketloBreedveld Guido Jvan Minkelen RickBrouwer Rutger W Wvan Ijcken Wilfred F Jvan Slegtenhorst Marjon ABonifati VincenzoQuadri Marialuisa - A better understanding of the link between cellular metabolism and tumorigenesis is needed. Here, we report characterization of a novel protein named coiled-coil helix tumor and metabolism 1 (CHTM1). We have found that CHTM1 is associated with cancer and cellular metabolism. CHTM1 localizes to mitochondria and cytosol, and its deficiency in cancer cells results in decreased mitochondrial oxygen consumption and ATP levels as well as oxidative stress indicating mitochondrial dysfunction. CHTM1-deficient cancer cells display poor growth under glucose/glutamine-deprived conditions, whereas cells expressing increased levels of exogenous CHTM1 exhibit enhanced proliferation and survival under similar conditions. CHTM1 deficiency also leads to defects in lipid metabolism resulting in fatty acid accumulation, which explains poor growth of CHTM1-deficient cells under glucose/glutamine deprivation since nutrient deprivation increases dependency on lipids for energy generation. We also demonstrate that CHTM1 mediates its effect via the PKC, CREB, and PGC-1alpha signaling axis, and cytosolic accumulation of CHTM1 during nutrient deprivation appears to be important for its effect on cellular signaling events. Furthermore, analyses of tissue specimens from 71 breast and 97 colon cancer patients show CHTM1 expression to be upregulated in the majority of tumor specimens representing these malignancies. Collectively, our findings are highly significant because CHTM1 is a novel metabolic marker that is important for the growth of tumorigenic cells under limiting nutrient supplies and thus, links cellular metabolism and tumorigenesis. - Source: PubMed
Publication date: 2018/01/26
Babbar MansiHuang YingAn JieLandas Steve KSheikh M Saeed - Rheumatoid arthritis (RA) is a highly prevalent chronic autoimmune disease. However, genetic and environmental factors involved in RA pathogenesis are still remained largely unknown. To identify the genetic causal variants underlying pathogenesis and disease progression of RA patients, we undertook the first comprehensive whole-exome sequencing (WES) study in a total of 124 subjects including 58 RA cases and 66 healthy controls in Han Chinese population. We identified 378 novel genes that were enriched with deleterious variants in RA patients using a gene burden test. The further functional effects of associated genetic genes were classified and assessed, including 21 newly identified genes that were involved in the extracellular matrix (ECM)-receptor interaction, protein digestion and absorption, focal adhesion and glycerophospholipid metabolism pathways relevant to RA pathogenesis. Moreover, six pathogenic variants were investigated and structural analysis predicted their potentially functional alteration by homology modeling. Importantly, five novel and rare homozygous variants (, , , and ) were identified, which may exhibit more functional impact on RA pathogenesis. Notably, 7 genes involved in the olfactory transduction pathway were enriched and associated with RA disease progression. Therefore, we performed an efficient and powerful technique WES in Chinese RA patients and identified novel, rare and common disease causing genes that alter innate immunity pathways and contribute to the risk of RA. Findings in this study may provide potential diagnostic tools and therapeutic strategies for RA patients. - Source: PubMed
Publication date: 2017/11/22
Li YingLai-Han Leung ElainePan HudanYao XiaojunHuang QingchunWu MinXu TingWang YuweiCai JunLi RunzeLiu WeiLiu Liang