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Omim herc2

Web14. okt 2024. · Moreover, we demonstrated that HERC2 and RAF proteins form molecular complexes, pull-down and proteomic experiments showed that HERC2 regulates C-RAF … WebHERC2 is a potential E3 ubiquitin protein ligase and/or guanine nucleotide exchange factor. The ZZ motif coordinates two zinc ions and most likely participates in ligand binding or ... cd14402 Location: 2460 → 2507 UBA_HERC2; UBA domain found in probable E3 ubiquitin-protein ligase HERC2 and similar proteins pfam00173 Location: 1209 → 1282

Entry - *605837 - HECT DOMAIN AND RCC1-LIKE …

WebOrthologous to human HERC2 (HECT and RLD domain containing E3 ubiquitin protein ligase 2); PARTICIPATES IN ubiquitin/proteasome degradation pathway; INTERACTS WITH 2,3,7,8-tetrachlorodibenzodioxine; 2,3,7,8-Tetrachlorodibenzofuran; 2,4-dinitrotoluene. ... OMIM Disease Annotation Pipeline: OMIM Disease Annotation Pipeline: 5. KEGG … Web06. sep 2011. · This page was last edited on 6 September 2011, at 08:19. Privacy policy. About SNPedia cult in texas netflix https://leishenglaser.com

ZFIN Gene: herc2 - Zebrafish Information Network

WebRabbit polyclonal HERC2 antibody. Validated in IHC, ICC/IF and tested in Human. Immunogen corresponding to recombinant fragment. Hello. We're improving abcam.com … WebHERC2, HECT and RLD domain containing E3 ubiquitin protein ligase 2 Vertebrate Orthologs 3 Vertebrate Orthology Source. Alliance of Genome Resources. Human … WebThe OCA2 gene (formerly called the P gene) provides instructions for making a protein called the P protein. This protein is located in melanocytes, which are specialized cells … cult in oregon that poisoned salad bar

HERC3 Gene - GeneCards HERC3 Protein HERC3 Antibody

Category:OCA2 gene: MedlinePlus Genetics

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Omim herc2

Gene: Herc2 - International Mouse Phenotyping Consortium

WebMental retardation, autosomal recessive 38, OMIM:615516; Green HERC2 in Intellectual disability Level 3: Neurodevelopmental disorders Level 2: Neurology and … WebIl colore degli occhi è un tratto poligenico determinato principalmente dalla quantità di melanina e dal tipo di pigmento dell'iride. Gli animali hanno molte variazioni del fenotipo per quanto riguarda il colore degli occhi. Negli esseri umani, in particolare, queste variazioni sono attribuite dal variare della proporzione di melanina prodotta dai melanociti dell'iride.

Omim herc2

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WebGene: HERC2. GWAS; Genes; HERC2; Gene information. Gene name-Description -Location-Cytogenetic region-Biotype-Gene in NCBI. Gene in Ensembl. Phenotype … Web01. dec 2024. · The HERC protein family is one of three subfamilies of Homologous to E6AP C-terminus (HECT) E3 ubiquitin ligases. Six HERC genes have been described in …

WebD000417. Ở người, bạch tạng ( tiếng Anh: albinism có nguồn gốc từ tiếng Latin: albus có nghĩa là "trắng" [1]) là một bệnh lý bẩm sinh có đặc trưng là sự thiếu một phần hoặc … WebHERC2 and directed to proteasomes for degradation (Dow-dle et al, 2014)(Mancias et al, 2014). These processes are most likely essential in macrophages, which are committed …

Web08. dec 2024. · Clinical resource with information about HERC2, A genome-wide association study identifies novel alleles associated with hair color and skin pigmentation., … WebBackground Deregulation of the activity of the ubiquitin ligase E6AP (UBE3A) is well recognised to contribute to the development of Angelman syndrome (AS). The ubiquitin …

http://www.hgmd.cf.ac.uk/ac/gene.php?gene=HERC2

WebReference: publication describing the variant submitted, incl. links to OMIM, PubMed or other source, e.g. "den Dunnen ASHG2003 P2346" ClinVar ID: ID of variant in ClinVar … cult in shawano wisconsinWebWe screened an additional 92 SNPs in 300-3000 European individuals and found that a single SNP in intron 86 of HERC2, rs12913832, predicted eye color significantly better … cultinvest assethttp://csbg.cnb.csic.es/odcs/connection_showresults.php?dis1=Glycogen%20storage%20disease%20due%20to%20liver%20phosphorylase%20kinase%20deficiency&dis2=Developmental%20delay%20with%20autism%20spectrum%20disorder%20and%20gait%20instability cult in utah salt lake cityWebHERC2. Reactome - An open-source, open access, manually curated and peer-reviewed pathway database. Antigen processing: Ubiquitination & Proteasome degradation. … cult in texas 2008WebHERC2 has 4,375 functional associations with biological entities spanning 8 categories (molecular profile, organism, disease, phenotype or trait, chemical, functional term, … cult in texas wacoWebOMIM is a comprehensive, authoritative compendium of human genes and genetic phenotypes that is freely available and updated daily. The full-text, referenced... east hills ny 11577Web21. mar 2024. · OCA2 (OCA2 Melanosomal Transmembrane Protein) is a Protein Coding gene. Diseases associated with OCA2 include Albinism, Oculocutaneous, Type Ii and … cult in oregon town