Guf1 gene and link with disease

Author: krim

August undefined, 2024

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: … WebGUF1. General description of the gene and the encoded protein (s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project. Official gene symbol, which is typically a short form of the gene name, according to HGNC. Full gene name according to HGNC.

DISEASES - GUF1 - JensenLab

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 sas consulting inc

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

WebMar 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 … WebGUF1 (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: … 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 … should a man wear a ring when engaged

Loss of Guf1 Impairs Sperm Mitochondrial Function and

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 … 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. should amazon spread into new marketsWebDec 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 … should amaryllis be pot bound

"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 ... " - Guf1 gene and link with disease

Guf1 gene and link with disease

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 … WebNational Center for Biotechnology Information

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WebGUF1 curation results Downloads More GUF1 View Gene Facts 0 Gene-Disease Validity Classifications 0 Dosage Sensitivity Classifications 0 Clinical Actionability Assertions 0 … 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 …

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 … WebZebrafish Disease Models Society (ZDMS) Genetics Society of America (GSA) Zebrafish Husbandry Association; Support. Nomenclature. Nomenclature Conventions; Line Designations; ... guf1 ID ZDB-GENE-030131-4289 Name GTP binding elongation factor GUF1 Symbol guf1 Nomenclature History Previous Names. fc88c11; im:6906935; …

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. … WebDescription CLN3 disease is an inherited disorder that primarily affects the nervous system. After 4 to 6 years of normal development, children with this condition develop vision impairment, intellectual disability, movement problems, speech difficulties, and seizures, which worsen over time.

WebDescription: Homo sapiens GUF1 homolog, GTPase (GUF1), transcript variant 1, mRNA; nuclear gene for mitochondrial product. (from RefSeq NM_021927) (from RefSeq …

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 … should amaryllis be deadheadedWebExpression 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 ... should amaryllis be fertilizedWebMar 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 … should a mattress be turnedWebGUF1 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 ... should a master bath have a tubWebOct 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 … sas controller treiber t3600WebGUF1 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. sas contract 2021 walesWebCharcot-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 sas contract wales