Omim herc2

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August undefined, 2024

WebPublication Ferritinophagy via NCOA4 is required for erythropoiesis and is regulated by iron dependent HERC2-mediated proteolysis. Mancias JD, Pontano Vaites L, Nissim S, … Web06. sep 2011. · This page was last edited on 6 September 2011, at 08:19. Privacy policy. About SNPedia

Heterochromia - PubMed

WebIndividuals with public variants. 348. Hidden variants. 22. Download all this gene's data. Download all data. Notes. Establishment of this gene variant database (LSDB) was … WebNot surprisingly, OCA2 and HERC2 are also associated with variation in skin and hair color (Branicki, Brudnik, & Wojas-Pelc, 2009). More studies suggested that six SNPs from five … stephenson soap making products

HERC2 is an E3 ligase that targets BRCA1 for degradation

WebHERC2. Reactome - An open-source, open access, manually curated and peer-reviewed pathway database. Antigen processing: Ubiquitination & Proteasome degradation. … Web21. mar 2024. · HERC2 (HECT And RLD Domain Containing E3 Ubiquitin Protein Ligase 2) is a Protein Coding gene. Diseases associated with HERC2 include Intellectual … Web67 rows · 19. jun 2014. · A homozygous missense mutation in HERC2 associated with global developmental delay and autism spectrum disorder. Hum. Mutat. 33: 1639-1646, … pipe angle tool

Human Gene HERC2 (uc001zbj.4) - genome.ucsc.edu

HERC2 HECT and RLD domain containing E3 ubiquitin protein …

Web21. mar 2024. · HERC1 (HECT And RLD Domain Containing E3 Ubiquitin Protein Ligase Family Member 1) is a Protein Coding gene. Diseases associated with HERC1 include Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation and Autoimmune Lymphoproliferative Syndrome, Type Iii.Among its related pathways are Class I MHC … WebHERC2 is a giant E3 ubiquitin protein ligase, implicated in DNA repair regulation, pigmentation and neurological disorders. It is encoded by a gene of the same name … pipe and wood shelves diyWebHERC2. D15F37S1, MRT38, SHEP1, jdf2, p528. HECT and RLD domain containing E3 ubiquitin protein ligase 2. UPS Project. GO Process (6) GO Function (5) GO Component … stephenson soap products

"WebHERC2 Gene, Drug Resistance, Tissue Distribution, Mutation Distribution, Variants, HERC2 Genome Browser, HERC2 References ... OMIM 605837 Transcript … " - Omim herc2

Omim herc2

Web01. avg 2010. · Here, we show that HERC2, a protein recently implicated in DNA damage repair, targets BARD1-uncoupled BRCA1 for degradation. HERC2 shuttles between the nucleus and the cytoplasm. Its COOH-terminal HECT-containing domain interacts with an NH (2)-terminal degron domain in BRCA1. HERC2 ubiquitinates BRCA1; this reaction … Web1 OMIM reference - See 1 associated gene No signs/symptoms info. Genes and interactions; Diseases info ... PHKA2 (UniProt - OMIM) HERC2 (UniProt - OMIM) PHKG2 (UniProt - OMIM) INTERACTOME ASSOCIATIONS (click on a score value to see the evidence) PHKG2 : HERC2 ; Citations in the biomedical literature: Glycogen storage …

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WebRabbit polyclonal HERC2 antibody. Validated in IHC, ICC/IF and tested in Human. Immunogen corresponding to recombinant fragment. Hello. We're improving abcam.com … WebHuman diseases caused by Herc2 mutations The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in …

Web07. dec 2024. · rs12913832 is a SNP near the OCA2 gene that may be functionally linked to blue or brown eye color, due to a lowering of promoter activity of the OCA2 gene. Blue … Web13. feb 2024. · Skin, Hair, Eye Pigmentation. In a large genomewide scan to identify variants associated with hair and eye pigmentation, skin sensitivity to sun, and freckling, Sulem et …

WebOMIM is a comprehensive, authoritative compendium of human genes and genetic phenotypes that is freely available and updated daily. The full-text, referenced overviews … WebHERC2 is a master regulator of G-quadruplex, a DNA secondary structure that triggers genomic instability, through BLM, WRN, and RPA, and may serve as a potential …

WebHerc2 Antibody (A-5) is an IgG 2b κ mouse monoclonal Herc2 antibody (also designated Herc2 antibody) suitable for the detection of the Herc2 protein of human origin by WB, …

Web21. mar 2024. · HERC3 (HECT And RLD Domain Containing E3 Ubiquitin Protein Ligase 3) is a Protein Coding gene. Diseases associated with HERC3 include Atypical Follicular Adenoma and Epidural Abscess.Among its related pathways are Class I MHC mediated antigen processing and presentation and Innate Immune System.Gene Ontology (GO) … stephensons opc foaming bath butter baseWebGene: HERC2. GWAS; Genes; HERC2; Gene information. Gene name-Description -Location-Cytogenetic region-Biotype-Gene in NCBI. Gene in Ensembl. Phenotype … stephenson solicitors brierley hillWebD000417. 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 … pipe apple keyboard windowsWeb01. 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 … pipe arch culvert contechWeb19. mar 2024. · Ген herc2 (jdf2; p528; shep1) кодирует огромный белок-фермент убиквитинлигазу Е3, участвующий в восстановлении поврежденных участков ДНК. … stephensons rebatch soap baseWebIl 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. stephensons portal hickorysWeb11. mar 2016. · The distinction between blue and brown eye colors can for the most part be explained genetically by one single-nucleotide polymorphim (SNP), rs12913832:A>G in … stephensons.ca