Guf1 gene and link with disease

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August undefined, 2024

WebHuman diseases caused by Guf1 mutations The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in … WebDevelopmental and epileptic encephalopathy, 1; Intellectual disability, X-linked, with or without seizures, arx-related; Corpus callosum agenesis-abnormal genitalia syndrome; X …

GUF1 Gene - GeneCards GUF1 Protein GUF1 Antibody

WebMar 29, 2024 · GUF1, a gene encoding a novel evolutionarily conserved GTPase in budding yeast. Kiser GL, et al. Yeast, 1995 Oct. PMID 8553703 The proteomic reactor facilitates … WebGUF1 has 3,929 functional associations with biological entities spanning 8 categories (molecular profile, organism, chemical, functional term, phrase or reference, disease, phenotype or trait, structural feature, cell line, cell type or tissue, gene, protein or microRNA) extracted from 59 datasets. phone link play audio on pc

Expression of GUF1 in cancer - Summary - The Human Protein Atlas

WebExpression of GUF1 (FLJ13220) in cancer tissue. The cancer tissue page shows antibody staining of the protein in 20 different cancers. ... GUF1: Gene description: GUF1 homolog, GTPase: Protein class i. Disease related genes: Predicted location i Intracellular: Number of transcripts i. 1: HUMAN PROTEIN ATLAS INFORMATION i. RNA category i ... http://www.informatics.jax.org/marker/MGI:2140726 WebView mouse Guf1 Chr5:69714255-69731995 with: sequences, polymorphisms, proteins, references, function. Home; Genes; Phenotypes; Human Disease; Expression; Recombinases; ... Click on a disease name to see all genes associated with that disease. Mutations, Alleles, and Phenotypes less. Phenotype Summary 22 phenotype references … how do you prevent cyber bullying

Genetic Disorders: What Are They, Types, Symptoms & Causes

WebOct 1, 2002 · The disease is caused by variants affecting the gene represented in this entry Description A form of epileptic encephalopathy, a heterogeneous group of severe early … WebK21594 GUF1; translation factor GUF1, mitochondrial ... West syndrome caused by homozygous variant in the evolutionary conserved gene encoding the mitochondrial elongation factor GUF1. ... [hsa:60558] All links . Ontology (3) KEGG BRITE (3) Disease (1) KEGG DISEASE (1) Gene (2640) KEGG GENES (612) KEGG MGENES (442) RefGene … how do you prevent congestive heart failureWebMar 21, 2024 · GUF1 (GTP Binding Elongation Factor GUF1) is a Protein Coding gene. Diseases associated with GUF1 include Developmental And Epileptic Encephalopathy 40 and West Syndrome . Gene Ontology (GO) annotations related to this gene include … TNF (Tumor Necrosis Factor) is a Protein Coding gene. Diseases associated with … how do you prevent cyberbullying

"WebThis gene encodes a GTPase that triggers back-translocation of the elongating ribosome during mitochondrial protein synt hesis. The protein contains a highly … " - Guf1 gene and link with disease

Guf1 gene and link with disease

The Membrane-bound GTPase Guf1 Promotes Mitochondrial

WebLocated in mitochondrion. Human ortholog(s) of this gene implicated in developmental and epileptic encephalopathy 40. Orthologous to human GUF1 (GTP binding elongation factor GUF1). [provided by Alliance of Genome Resources, Apr 2024] Guf1 GUF1 homolog, GTPase [ (house mouse)] Gene ID: 231279, updated on 14-Mar-2024. Summary. … WebNM_021927.3(GUF1):c.655G>T (p.Asp219Tyr) AND Long QT syndrome - ClinVar - NCBI ClinVar archives and aggregates information about relationships among variation and human health. NCBI Skip to main content Skip to navigation Resources All Resources Chemicals & Bioassays BioSystems PubChem BioAssay

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WebThe gene view histogram is a graphical view of mutations across GUF1. These mutations are displayed at the amino acid level across the full length of the gene by default. Restrict the view to a region of the gene by dragging across the histogram to highlight the region of interest, or by using the sliders in the filters panel to the left. WebCharcot-Marie-Tooth disease axonal type 2N; Developmental and epileptic encephalopathy, 29; Leukoencephalopathy, hereditary diffuse, with spheroids 2; Trichothiodystrophy 8, nonphotosensitive; Charcot-Marie-Tooth disease type 2B2; Microcephaly, seizures, and developmental delay; Ataxia - oculomotor apraxia type 4; Childhood absence epilepsy

WebDec 4, 2024 · It can regulate the expression of mitochondrial protein GUF1, thereby reducing SDHA expression level to attenuate oxidative injury. Consequently, this study expands our understanding on the mechanism of mitochondrial-targeting molecules to attenuate myocardial I/R injury, and it also provides a new strategy to improve the … Web19 hours ago · Credit: University of Hawaii at Manoa. A potential link between intestinal bacteria and the disproportionately higher rates of certain chronic disease and mental …

WebOct 5, 2024 · RT-PCR showed that the PA-induced AS of several mitochondrial function-related genes (Polg2, Nudt13, Guf1, Rnasel, and Nme4) was significantly reversed in … WebBlueprint Genetics' GUF1 single gene test GUF1 single gene test. Orders including this test may experience turnaround time delays of up to 3 weeks. close. Blueprint Genetics. Diagnostic tests ... ~2,000 non-coding disease causing variants in our clinical grade NGS assay for panels (please see ‘Non-coding disease causing variants covered by ...

WebMar 4, 2015 · GTPase of unknown function 1 (Guf1) is a mitochondrial protein in eukaryotes. Although this protein was identified several years ago, its physiological role in mammals remains elusive. Here, we...

WebGUF1 [ENSP00000281543] Translation factor GUF1, mitochondrial; Promotes mitochondrial protein synthesis. May act as a fidelity factor of the translation reaction, by catalyzing a one- codon backward translocation of tRNAs on improperly translocated ribosomes. phone link running in backgroundWebGUF1 (GTP binding elongation factor GUF1) HGNC: EggNOG, Ensembl, Inparanoid, NCBI, OMA, OrthoDB, Panther, Treefam: Mus musculus (house mouse): Guf1 (GUF1 homolog, GTPase) Transitive Ortholog Pipeline: Transitive Ortholog Pipeline: Rattus norvegicus (Norway rat): Guf1 (GTP binding elongation factor GUF1) Transitive Ortholog Pipeline: … how do you prevent cut apples from browningWebGUF1 Antibody (B-7) is a monoclonal GUF1 antibody that detects m, r, and h GUF1 by WB, IP, IF and ELISA. ... GUF1 is encoded by a gene located on human chromosome 4, which encodes nearly 6% of the human genome and has the largest gene desert (regions of the genome with no protein encoding genes) of all of the human chromosomes ... how do you prevent crabsWebGUF1 PATHOLOGY CANCER ANTIBODIES AND VALIDATION Dictionary Human pathology PROGNOSTIC SUMMARYi Prognostic marker in renal cancer (favorable) and … how do you prevent deadlocksWebOct 21, 2015 · The association of GUF1 with Mendelian disease (early infantile epileptic encephalopathy) is reported in OMIM as provisional and based solely on the finding of a … phone link remove commandWebView mouse Guf1 Chr5:69714255-69731995 with: sequences, polymorphisms, proteins, references, function. Home; Genes; Phenotypes; Human Disease; Expression; … how do you prevent coffee stains on teethWebExpression of GUF1 (FLJ13220) in cancer tissue. The cancer tissue page shows antibody staining of the protein in 20 different cancers. ... GUF1: Gene description: GUF1 … phone link reviews