2024 Thg1l gene

Thg1l gene

Author: caeu

August undefined, 2024

WebThg1l. protein-coding gene in the species Mus musculus. tRNA-histidine guanylyltransferase 1-like (S. cerevisiae) Statements. instance of. gene. WebDescription: Homo sapiens tRNA-histidine guanylyltransferase 1 like (THG1L), transcript variant 1, mRNA. (from RefSeq NM_017872) RefSeq Summary (NM_017872): The protein encoded by this gene is a mitochondrial protein that is induced by high levels of glucose and is associated with diabetic nephropathy. The encoded protein appears to increase …

THG1L DepMap Gene Summary

Web8 Dec 2024 · THG1L. tRNA-histidine guanylyltransferase 1 like. Gene ID: 54974, updated on 8-Dec-2024. Gene type: protein coding. Also known as: IHG1; THG1; ICF45; IHG-1; hTHG1; … WebNM_017872.5(THG1L):c.695T>C (p.Leu232Pro) Cite this record. Cite this record Close. Copy. Help Interpretation: Benign Review status: criteria provided, multiple submitters, no conflicts Submissions: 2 First in ClinVar: ... ray\\u0027sean taylor sports-reference

THG1L gene with submissions organized by classifications

Web15 Jun 2016 · Using whole exome sequencing, we identified homozygous p.Val55Ala in the THG1L (tRNA-histidine guanylyltransferase 1 like) gene in three siblings who presented … WebAdds a GMP to the 5'-end of tRNA(His) after transcription and RNase P cleavage. This step is essential for proper recognition of the tRNA and for the fidelity of protein synthesis. The protein encoded by this gene is a mitochondrial protein that is induced by high levels of glucose and is associated with diabetic nephropathy. The encoded protein appears to … WebFull gene name according to HGNC. TRNA-histidine guanylyltransferase 1 like. Gene namei. Official gene symbol, which is typically a short form of the gene name, according to … ray\\u0027s electric trainworks

HMDB0001273 (Guanosine triphosphate) Protein Associations

gene2phenotype - ebi.ac.uk

WebTHG1L. 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. … WebFunctional Associations. THG1L has 3,279 functional associations with biological entities spanning 8 categories (molecular profile, organism, chemical, functional term, phrase or … ray\\u0027s electric supplyWebGene thg1l ID ZDB-GENE-041114-170 Name tRNA-histidine guanylyltransferase 1-like Symbol thg1l Nomenclature History Previous Names zgc:101609 Type … ray\\u0027s electric berlin nh

"WebProduct name:Recombinant Human THG1L Protein, His Tag;Cat#:RP-15493H;Source:E. coli;Purity:;Stability:Recombinant Proteins are stable for up to 1 year from date of receipt at -70℃;Reconstitution:Reconstitute at 0.25 µg/μl in 200 μl sterile water for short-term storage. " - Thg1l gene

Thg1l gene

WebTHG1L - Sequence 1 GENE 1 ISO 27 REF Gold Only Extend overview THG1L → Probable tRNA (His) guanylyltransferase [ EC 2.7.7.79 ] Protein also known as : Interphase … WebGene: THG1L:tRNA-histidine guanylyltransferase 1 like [Gene - OMIM - HGNC] Variant type: single nucleotide variant Cytogenetic location: 5q33.3 Genomic location: Chr5: 157731604 (on Assembly GRCh38) Chr5: 157158612 (on Assembly GRCh37) Preferred name: NM_017872.5(THG1L):c.164T>C (p.Val55Ala)

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Web1 Oct 2016 · A mutation in the THG1L gene in a family with cerebellar ataxia and developmental delay. 6: 21078997: 2010: Crystal structure of a reverse polymerase. 2: … WebIn summary, we herein identified rs2419385 as a SNP associated with hair thinning in Japanese women. This SNP and the genes located near it may provide novel insights into hair thinning in Japanese women.

WebTHG1L Gene, Drug Resistance, Tissue Distribution, Mutation Distribution, Variants, THG1L Genome Browser, THG1L References THG1L - Explore an overview of THG1L, with a … WebHuman Gene THG1L (ENST00000231198.12) from GENCODE V43 : Description: Homo sapiens tRNA-histidine guanylyltransferase 1 like (THG1L), transcript variant 1, mRNA. …

WebGene symbol Genotype Mutation consequence Disease Panels Go to page; THG1L: biallelic_autosomal: altered gene product structure: THG1L-associated cerebellar ataxia WebA number sign (#) is used with this entry because of evidence that infantile liver failure syndrome-2 (ILFS2) is caused by homozygous or compound heterozygous mutation in the NBAS gene (608025) on chromosome 2p24. ... Molecular Genetics In 5 unrelated German patients with ILFS2, Haack et al. (2015) identified homozygous or compound …

WebHUGO Gene Nomenclature Committee (HGNC) approved gene symbol report

WebBy using this site, you agree to our Terms and Conditions Got it! ray\\u0027s duck houseWebTHG1L ATAD1 ABHD11 EIF2A PFAS EIF2B4 PRPF31 EXOSC5 SLC25A19 NOL10 MARS2 EXOSC4 ELP2 ALG10 SDAD1 PGLS COQ6 SLC25A40 TP53RK ATAD2 CWC22 SURF4 KIAA0368 OTUD6B SARS2 PMPCA OVCA2 DDX47 EXOSC2 TRMT5 ... enzyme production, gene expression, etc.) as a result of a stimulus indicating damage to its DNA from … ray\\u0027s electric troyWebSymbol Description Category UniProt ID GIFtS GC id Score; 1: THG1L: TRNA-Histidine Guanylyltransferase 1 Like: Protein Coding: Q9NWX6: 48: GC05P157731: 34.70: 2: ADAM19 ray\\u0027s electronicsWebJournal of Cell Biology September 29, 2024 See publication A mutation in the THG1L gene in a family with cerebellar ataxia and developmental delay Neurogenetics Oct 2016 See publication... ray\u0027s duck houseWebCROSS-REFERENCE TO RELATED APPLICATIONS. This application is a Continuation of U.S. patent application Ser. No. 16/649,732, filed Mar. 23, 2024, which is a national stage filing u ray\\u0027s electric dickinson ndhttp://www.informatics.jax.org/marker/MGI:1913878 ray\\u0027s electric oaklandWebFunctional Associations. THG1L has 3,279 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 60 datasets. ray\u0027s electric supply