Ask about this productRelated genes to: RTN4IP1 Blocking Peptide
- Gene:
- RTN4IP1 NIH gene
- Name:
- reticulon 4 interacting protein 1
- Previous symbol:
- -
- Synonyms:
- NIMP
- Chromosome:
- 6q21
- Locus Type:
- gene with protein product
- Date approved:
- 2002-05-23
- Date modifiied:
- 2014-11-18
Related products to: RTN4IP1 Blocking Peptide
Related articles to: RTN4IP1 Blocking Peptide
- Mitochondrial dysfunction is implicated in mitral valve diseases (MVD), but specific genetically predicted genes and molecular mechanisms remain undefined. - Source: PubMed
Publication date: 2026/07/16
Tian BaiyuMeng FeiWang JiangangZhang HaiboLuo TiangeFu JintaoLiu KeminZhang WenboZhao ChengJiao YuqingSun Junhui - Biallelic pathogenic variants of the Reticulon 4 interacting protein 1 (RTN4IP1) gene are responsible for optic atrophy, either isolated or associated with ataxia, mental retardation, and seizures. They are identified as a cause of hereditary optic neuropathy in 7% of patients diagnosed before the age of 20. We have built a dataset for this gene by collating all the clinical cases available in the literature, and unpublished patients diagnosed at our centre, using standard nomenclature to describe both the molecular and phenotypic features. We performed a comprehensive data analysis, based on computational reasoning, to provide an overall picture of the dataset and validate its relevance. This new dataset provides an updated genetic map of the reported pathogenic variants, an ontological annotation of phenotypic abnormalities in a grid format showing clinical heterogeneity, and a full interoperability with the databases of other genetic forms of optic neuropathies. - Source: PubMed
Publication date: 2026/05/07
Rocatcher AudeDieu XavierDesquiret-Dumas ValérieBilliet BenjaminChassaing NicolasDollfus HélèneMeunier IsabelleRougier Marie-BénédictePolfrit YannLenaers GuyMilea DanGohier PhilippeMirebeau-Prunier DelphineAmati-Bonneau PatriziaReynier PascalFerré Marc - Distant organ metastasis is the leading cause of mortality in breast cancer (BC), particularly in aggressive subtypes such as triple-negative breast cancer (TNBC). Metabolic reprogramming is a key driver of TNBC metastasis and is closely linked to remodeling of the mitochondrial proteome. Reticulon 4-interacting protein 1 (RTN4IP1) is a mitochondrial matrix protein that has recently emerged as a regulator of cellular metabolism. However, whether RTN4IP1 promotes BC metastasis through metabolic reprogramming remains unclear. - Source: PubMed
Publication date: 2026/04/14
Han ChaoMao KeleiZhang DihuiLiu DongxuYu Zhigang - Abnormal expression of RTN4IP1 is implicated in diverse pathologies, including malignant tumors, yet its role in breast cancer (BC) remains insufficiently defined. This study integrated TCGA-based bioinformatics analysis with experimental validation to characterize RTN4IP1-related phenotypes. RTN4IP1 mRNA and protein levels were elevated in BC tissues compared to normal breast tissue, with higher expression correlating with advanced T/N stages, HER2 positivity, aggressive PAM50 subtypes, and lower PR/ER status. Clinically, increased RTN4IP1 expression was more frequent in Black/African American patients, postmenopausal women, and invasive ductal carcinoma cases. Elevated expression was also linked to poorer overall survival in both the TNBC and HER2-positive subgroups. Functional assays showed that RTN4IP1 silencing was accompanied by reduced proliferation, increased apoptosis, and inhibited xenograft growth in MCF-7 and MDA-MB-453 models, whereas overexpression exhibited the opposite pattern. RTN4IP1 expression was further linked to features of the tumor immune microenvironment and to differential responses to Tamoxifen and Paclitaxel; inhibition of RTN4IP1 was associated with greater drug sensitivity, while overexpression coincided with reduced response. Together, these findings indicate that RTN4IP1 is closely associated with BC progression, prognosis, and treatment response, supporting its potential relevance as a biomarker and a candidate target for further investigation. - Source: PubMed
Publication date: 2026/02/09
He WeijieJiang YilingJiang BaohongTang YuanbinZeng LijunLuo LunqiLiao XiaolinWu SixuanTan YeruLi Yuehua - RTN4IP1 encodes a mitochondrial oxidoreductase essential for coenzyme Q biosynthesis; pathogenic variants have been reported mainly in optic neuropathy and encephalopathy. We describe a 30-year-old woman carrying three novel pathogenic RTN4IP1 variants by exome sequencing (c.1163G>A p.Arg388Gln, c.949A>C p.Met317Leu, and c.1109T>C p.Phe370Ser), who presented with panhypopituitarism, optic nerve hypoplasia, corpus callosum agenesis, bicuspid aortic valve disease, seizures, and muscle pain, already on conventional hormone replacement. Coenzyme Q10 (CoQ10) (200 mg) was administered orally for six months; outcomes were assessed using BPI, WOMAC, TUG, LEFS, grip-strength dynamometry, SF-36, CPK, and LDH, and after six months of daily 200 mg CoQ10, the patient showed marked reductions in pain (BPI 4 → 0.8; -80%) and muscle-damage markers (CPK 254 → 110 U/L) together with gains in grip strength (+49%) and lower-extremity function (LEFS 31 → 60; +94%). SF-36 domains related to physical health showed marked gains, while emotional scores remained stable. This is the first report linking RTN4IP1 mutations to endocrine failure and suggesting a therapeutic role for CoQ10 in mitochondrial-related endocrine disease. - Source: PubMed
Publication date: 2026/02/13
Digitale Selvaggio LuciaAllosso FrancescaErrico MartinaGrande GraziellaYousaf MuhammadTorella AnnalauraNigro VincenzoPasquali Daniela