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Gigaxonin protein sequence

WebKnow comprehensive GAN protein information including protein sequence, molecular weight, theoretical pI, structure, function and protein interaction. U.S.A. English. Chinese(中文简体) Chinese(中文繁體) ... FT CHAIN 1-597 Gigaxonin. Molecular weight (Da) 67638.47 Theoretical pI . 5.58 ... WebNX_Q9H2C0 - GAN - Gigaxonin - Structures. Probable cytoskeletal component that directly or indirectly plays an important role in neurofilament architecture. May act as a substrate-specific adapter of an E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. Controls degradation of TBCB.

A review of gigaxonin mutations in giant axonal …

WebWe report here identification of the gene GAN, which encodes a novel, ubiquitously expressed protein we have named gigaxonin. We found one frameshift, four nonsense … WebAbstract. Gigaxonin, the product of GAN gene localized to chromosome 16, is associated with the early onset neuronal degeneration disease giant axonal neuropathy (GAN). … how to watch cbsn https://cherylbastowdesign.com

Gigaxonin - Wikipedia

WebNov 16, 2016 · In silico mutation analysis provided conflicting predictions as to the functional outcome of the variant on the gigaxonin protein: PolyPhen-2 HumDiv and HumVar both predicted the variant to be benign with scores of 0.108 and 0.021 respectively, while SIFT and PROVEAN predicted the variant to be disease causing with scores of 0.017 and … WebFeb 2, 2024 · Giant axonal neuropathy (GAN) is a severe and rare autosomal recessive neurodegenerative disorder of childhood affecting both the peripheral and central nervous systems (CNS). It is caused by mutations in the GAN (gigaxonin) gene linked to chromosome 16q24. Here, we present a 15-year-old male patient with GAN from a … WebOct 16, 2005 · Our study defines gigaxonin as a ubiquitin-scaffolding protein that recruits E1 and directs ubiquitin-mediated degradation of MAP1B-LC, a role critical to neuronal … original hp 564xl ink cartridges

UniProt

Category:GAN - Gigaxonin - Sus scrofa (Pig) - GAN gene & protein

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Gigaxonin protein sequence

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WebBethyl Laboratories Anti-Gigaxonin Polyclonal, Catalog # A302-906A. Tested in Western Blot (WB) and Immunoprecipitation (IP) applications. ... Based on 100% sequence identity, this antibody is predicted to react with Mouse ... The encoded protein plays a role in neurofilament architecture and is involved in mediating the ubiquitination and ... Weba, Sequence alignment between human gigaxonin, mayven and ENC-1 proteins, and mouse Keap1 protein. Drosophila kelch protein, which is 59% identical to mayven, is not shown. Identical residues are ...

Gigaxonin protein sequence

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WebGiven AAV packaging con- straints, 27,28 use of the short JeT promoter allows sc packaging of the 1.9-kb gigaxonin coding sequence, which is predicted to stably transduce at least 10-fold more ... WebApr 12, 2024 · 1 INTRODUCTION. Gigaxonin is a ubiquitously expressed protein encoded by the GAN gene located on human chromosome 16q24.1. 1, 2 The lack or loss of …

WebmRNA and Protein(s) NM_001377486.1 → NP_001364415.1 gigaxonin isoform 2. Status: REVIEWED. Source sequence(s) AC009148, AC092139 Conserved Domains (2) summary PHA03098 Location: 86 → 289 PHA03098; kelch-like protein; Provisional sd00038 … Add your description of the function of the gene or its protein product. Enter your e … A novel sequence alteration in the gene GAN, c.103G > T, was identified as … WebOct 31, 2024 · Giant axonal neuropathy (GAN) is a pediatric, hereditary, neurodegenerative disorder that affects both the central and peripheral nervous systems. It is caused by mutations in the GAN gene, which codes for the gigaxonin protein. Gigaxonin plays a role in intermediate filament (IF) turnover hence loss of function of this protein leads to IF …

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WebNov 22, 2005 · Here, we show that gigaxonin controls protein degradation of tubulin folding cofactor B (TBCB) , a function disrupted by GAN-associated mutations. The substantial TBCB protein accumulation caused by impaired UPS may be a causative factor of cytoskeletal pathology in GAN. Our study provides important insight into pathogenesis of ...

WebDec 12, 2014 · p16 Protein and gigaxonin are associated with the ubiquitination of NFκB in cisplatin-induced senescence of cancer cells J Biol Chem. 2014 Dec 12;289 (50):34921 ... assays show that this modification is associated with the inhibition of NFκB interacting with its DNA binding sequences, leading to decreased expression of NFκB-transcribed ... original hp 63WebNormal Function. The GAN gene provides instructions for making a protein called gigaxonin. Gigaxonin is part of the ubiquitin-proteasome system, which is a multi-step process that identifies and gets rid of excess or damaged proteins or structures (organelles) within cells. The ubiquitin-proteasome system tags unneeded proteins with a small ... how to watch cbs nfl games onlineWebNormal Function. The GAN gene provides instructions for making a protein called gigaxonin. Gigaxonin is part of the ubiquitin-proteasome system, which is a multi-step … how to watch cbs nfl football onlineWebAug 5, 2002 · Based on its sequence, gigaxonin contains an NH2-terminal BTB domain followed by six kelch repeats, which are believed to be important for protein-protein interactions (Adams, J., R. Kelso, and L. Cooley. 2000. Trends Cell Biol. 10:17-24.). Here, we report the identification of a neuronal binding partner of gigaxonin. original hp 61 black/tri-color inkWebGiant axonal neuropathy (GAN) is an early-onset neurological disorder caused by mutations in the GAN gene (encoding for gigaxonin), which is predicted to be an E3 ligase adaptor. In GAN, aggregates of intermediate filaments (IFs) represent the main pathological feature detected in neurons and other … original hp 414a black toner cartridgeWebFeb 25, 2024 · The GAN gene encodes gigaxonin, which belongs to the BTB/kelch cytoskeleton protein family, contains an N-terminus BTB domain, a C-terminus kelch domain, and a BACK domain between the N and C terminuses. Gigaxonin has been proposed to be an E3 ligase substrate adaptor, which may be important for the turnover … how to watch cbs on computerWebJun 28, 2024 · The gigaxonin protein encoded by GAN gene is a member of the BTB-Kelch family and is composed of BTB and six Kelch repeat subunits . The BTB domain of gigaxonin protein can bind to the ubiquitin activating enzyme to form a ubiquitin proteasome system (UPS), and the Kelch domain binds to the potential degradation … how to watch cbs on dish