Gigaxonin protein sequence
WebNormal 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 … WebGiant 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 …
Gigaxonin protein sequence
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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 … Gigaxonin also known as kelch-like protein 16 is a protein that in humans is encoded by the GAN gene.
WebJul 1, 2016 · Gigaxonin functions as an E3 ubiquitin ligase adaptor protein and mediates the ubiquitination and subsequent proteasomal degradation of the targeted proteins [20][21] [22]. Although several 3 ... 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 …
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 ... WebGigaxonin is a cytoplasmic protein containing a BTB domain and six Kelch repeats. It binds directly to the ubiquitin-activating enzyme E1 and controls the ubiquitin-mediated …
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 ...
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 … lagu mengapa nicky astria mp3WebGiven 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 ... jeep\u0027s qzWebApr 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 … lagu mengapa semua menangisWebFeb 15, 2024 · Thus, the covalent ubiquitination of the Cherry-ATG16L1 protein was assessed after transfection with a His-Ubiquitin construct in presence or absence of Gigaxonin short interfering RNAs (siRNAs ... jeep\\u0027s rWebWith the first genetic variant identified in the short ESTaa306952, the full 1791 bp coding sequence was cloned and shown to encompass 11 exons. The novel protein, named Gigaxonin was shown to contain a BTB domain at its N-terminus and a Kelch domain, composed of 6 Kelch repetitions at its C-terminal end (Bomont et al., 2000; Figure 4A). jeep\\u0027s qzWebFeb 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 … lagu mengapa masih ada sisa rasa di dadaWebClinVar archives and aggregates information about relationships among variation and human health. jeep\\u0027s r1