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
- Atopic dermatitis (AD) is a common and chronic inflammatory skin disease with global prevalence. Its clinical heterogeneity and complex molecular mechanisms pose significant challenges for the development of effective therapies. To explore AD molecular heterogeneity using lesional skin transcriptomic data, characterize their biological and immune profiles, and identify key genes underlying the differentiation. Differentially expressed genes were identified using DESeq2, followed by pathway and co-expression analyses via GSEA and WGCNA, respectively. Mitochondrial-related genes were extracted by intersecting DEGs and WGCNA modules with the MitoCarta3.0 database, and their functional relevance was assessed through GO and KEGG enrichment. Hub genes were identified by protein-protein interaction network analysis, which were subsequently used to construct a classification model. Transcriptional regulators were predicted using hTFtarget, while immune cell infiltration was quantified using CIBERSORT. Two molecular subgroups were identified. Cluster 1 was enriched in cell signaling and adhesion pathways, whereas Cluster 2 exhibited upregulation of oxidative phosphorylation and proteasome-related processes. A total of 85 mitochondrial-associated genes, primarily involved in energy metabolism, were differentially expressed between clusters. PPI network analysis identified four hub genes (BAD, BOLA1, CHCHD5, and ISOC2), which were significantly upregulated in Cluster 1. A hub gene-based classifier demonstrated strong discriminatory power (area under the curve > 0.7). Predicted key transcriptional regulators included ATF3, BRD2, BRD4, and CEBPA. Immune profiling revealed higher regulatory T cell infiltration in Cluster 1 and increased follicular helper T cells in Cluster 2. This study reveals two molecularly and immunologically distinct AD subtypes, characterized by differential mitochondrial function and immune microenvironment signatures. - Source: PubMed
Publication date: 2026/05/26
Yu YingyaoShang YuanyuanGe XinhongDong LingdiLi Kexin - Mutations in PTRHD1 have recently been implicated in autosomal recessive neurodevelopmental syndromes characterized by intellectual disability, and variably penetrant early-onset parkinsonism, mainly in consanguineous families of Middle Eastern or African origin. - Source: PubMed
Publication date: 2026/02/18
Pedullà GiuseppeMorelli MaurizioSoliveri PaolaReale ChiaraProcopio RadhaFelicetti AlessiaQuattrone AndreaAnnesi GraziaOperto FrancescaGambardella AntonioQuattrone AldoGagliardi Monica - 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