Guf1 gene and link with disease

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August undefined, 2024

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 … WebClick "Disease Details" to view all Disease information and evidence for this locus as well as diseases it shares with other genes. Summary Yeast GUF1 is orthologous to human …

Guf1 Mouse Gene Details GUF1 homolog, GTPase International …

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 ... 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 … garmin forerunner 45 stuck on wait for gps

GUF1 SGD

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. WebOct 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 … 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 ... black red ribbon

NM_021927.3(GUF1):c.655G>T (p.Asp219Tyr) AND Long QT …

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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 … 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 … black red ripped jeansWebMar 29, 2024 · Go to Variation Viewer for GUF1 variants Summary This gene encodes a GTPase that triggers back-translocation of the elongating ribosome during mitochondrial … blackred push pull machine

"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. " - Guf1 gene and link with disease

Guf1 gene and link with disease

List of variants in gene GUF1 studied for epilepsy - ClinVar Miner

WebDevelopmental and epileptic encephalopathy, 1; Intellectual disability, X-linked, with or without seizures, arx-related; Corpus callosum agenesis-abnormal genitalia syndrome; X … 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...

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WebIn 3 sibs, born of consanguineous Algerian parents, with developmental and epileptic encephalopathy-40 (DEE40; 617065 ), Alfaiz et al. (2016) identified a homozygous … WebGUF1 curation results Downloads More GUF1 View Gene Facts 0 Gene-Disease Validity Classifications 0 Dosage Sensitivity Classifications 0 Clinical Actionability Assertions 0 …

WebJun 20, 2008 · Guf1 Is Located in the Mitochondrial Matrix—While prokaryotic LepA and eukaryotic Guf1 proteins are highly conserved, the eukaryotic proteins consistently show N-terminal extensions that are absent in LepA proteins (Fig. 1B, Pre).These sequences show the characteristics of mitochondrial targeting signals. In a genome-wide screen a fusion … 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 …

http://www.informatics.jax.org/marker/MGI:2140726 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. …

WebGUF1 homolog, GTPase is a protein that in humans is encoded by the GUF1 gene . [5] It is the mitochondrial homolog of elongation factor 4 . References [ edit] ^ a b c GRCh38: …

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 … black red rock and roll cowgirl dressesWebNM_021927.3(GUF1):c.1390_1394del (p.Lys465fs) AND not provided Clinical significance: Uncertain significance (Last evaluated: Aug 22, 2024) Review status: 1 star out of maximum of 4 stars black red reebok shoesWebMar 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 … black red rimsWebNM_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 black red roomWebOct 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 … black red qualifier torque helmetWebDescription: Homo sapiens GUF1 homolog, GTPase (GUF1), transcript variant 1, mRNA; nuclear gene for mitochondrial product. (from RefSeq NM_021927) (from RefSeq … garmin forerunner 45s wont sync redditWebOct 5, 2024 · Nonalcoholic steatohepatitis (NASH) is an advanced stage of nonalcoholic fatty liver disease (NAFLD) with serious consequences that currently lacks approved pharmacological therapies. Recent studies suggest the close relationship between the pathogenesis of NAFLD and the dysregulation of RNA splicing machinery. garmin forerunner 45s white