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Guf1 gene and link with disease

WebDevelopmental and epileptic encephalopathy, 1; Intellectual disability, X-linked, with or without seizures, arx-related; Corpus callosum agenesis-abnormal genitalia syndrome; X … WebGUF1 curation results Downloads More GUF1 View Gene Facts 0 Gene-Disease Validity Classifications 0 Dosage Sensitivity Classifications 0 Clinical Actionability Assertions 0 …

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

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. Web14581 Ensembl ENSG00000162676 ENSMUSG00000029275 UniProt Q99684 P70338 RefSeq (mRNA) NM_001127215 NM_001127216 NM_005263 NM_001267621 … christensen yakima https://etudelegalenoel.com

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

http://www.informatics.jax.org/marker/MGI:2140726 WebGUF1 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 ... 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 … christer jensen tomelilla

West syndrome caused by homozygous variant in the evolutionary ...

Category:Gene - GUF1

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Guf1 gene and link with disease

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

WebGUF1 PATHOLOGY CANCER ANTIBODIES AND VALIDATION Dictionary Human pathology PROGNOSTIC SUMMARYi Prognostic marker in renal cancer (favorable) and … 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...

Guf1 gene and link with disease

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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. 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.

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. 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 …

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

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 ...

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: … christentum johannesWebMar 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 … christentum palästinaWeb19 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 … christer jonsson advokatWebOct 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. christer jonsson hudiksvallWebHuman 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 … christer johansson riseWebNM_021927.3(GUF1):c.1360A>T (p.Ile454Phe) AND Inborn genetic diseases Clinical significance: Uncertain significance (Last evaluated: Oct 5, 2024) Review status: 1 star out of maximum of 4 stars christentum rom kaiserWebOct 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 … christer jonsson kalmar