Guf1 gene and link with disease

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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 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.

A Mitochondrial Targeting Tanshinone IIA Derivative Inhibits

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 … WebIn 3 sibs, born of consanguineous Algerian parents, with developmental and epileptic encephalopathy-40 (DEE40; 617065 ), Alfaiz et al. (2016) identified a homozygous … is aaron brothers still open

GUF1 - Wikipedia

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 ... WebDescription: Homo sapiens GUF1 homolog, GTPase (GUF1), transcript variant 1, mRNA; nuclear gene for mitochondrial product. (from RefSeq NM_021927) (from RefSeq … 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 … is aaron carter\\u0027s son really his

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

ZFIN Gene: guf1

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. 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 is aaron burnett leaving cnnWeb14581 Ensembl ENSG00000162676 ENSMUSG00000029275 UniProt Q99684 P70338 RefSeq (mRNA) NM_001127215 NM_001127216 NM_005263 NM_001267621 … is aaron burriss brother alex wassabi

"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. … " - Guf1 gene and link with disease

Guf1 gene and link with disease

DRAK2 aggravates nonalcoholic fatty liver disease

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 … WebGenetic disorders can be: Chromosomal: This type affects the structures that hold your genes/DNA within each cell (chromosomes). With these conditions, people are missing or have duplicated chromosome material. Complex (multifactorial): These disorders stem from a combination of gene mutations and other factors.

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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 … 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 ...

WebThe following gRNA sequences were designed by Feng Zhang’s laboratory at the Broad institute* to uniquely target the GUF1 gene within the human genome. These gRNA sequences are for use with WT SpCas9, or as crRNA for use with WT SpCas9 protein, to introduce a DSB for genome editing. WebThis gene encodes a GTPase that triggers back-translocation of the elongating ribosome during mitochondrial protein synt hesis. The protein contains a highly …

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: … 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 …

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 …

WebDevelopmental and epileptic encephalopathy, 1; Intellectual disability, X-linked, with or without seizures, arx-related; Corpus callosum agenesis-abnormal genitalia syndrome; X … is aaron from aphmau a werewolfWebOct 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. is aaron coleman a democratWebGUF1 curation results Downloads More GUF1 View Gene Facts 0 Gene-Disease Validity Classifications 0 Dosage Sensitivity Classifications 0 Clinical Actionability Assertions 0 … is aaron davis the prowlerWebNM_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 is aaron cody smith in prisonWebGUF1 [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. is aaron from attack on titanWebDec 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 … is aaron crum related to dusty crumWebOct 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 … is aaron cole a christian artist