Gigaxonin protein sequence
WebClinVar archives and aggregates information about relationships among variation and human health. 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 …
Gigaxonin protein sequence
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WebFeb 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 ... WebAbstract. Gigaxonin, the product of GAN gene localized to chromosome 16, is associated with the early onset neuronal degeneration disease giant axonal neuropathy (GAN). …
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 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 ...
WebDistantly related proteins sharing a similar domain organization have various functions associated with the cytoskeleton, predicting that gigaxonin is a novel and distinct … 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 ...
Gigaxonin also known as kelch-like protein 16 is a protein that in humans is encoded by the GAN gene.
WebDec 17, 2012 · The defective protein, gigaxonin, which was first identified in children with a rare and untreatable genetic disease called giant axonal neuropathy (GAN), according to Saleemulla Mahammad, PhD, of ... the lindley scott houseWebVery easy. Easy. Moderate. Difficult. Very difficult. Pronunciation of gigaxonin with 1 audio pronunciations. 0 rating. Record the pronunciation of this word in your own voice and … ticket chart preparation timeWebmRNA 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 … the lindley nycWebNX_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. the lindley street poltergeistWebBethyl 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 ... the lindley inn athens ohioWeba, 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 ... ticket checker ontarioWebDec 16, 2008 · PIRSF037037 Kelch-like_protein_gigaxonin 1 hit; PROSITE. View protein in PROSITE; PS50097 BTB 1 hit; Pfam. View protein in Pfam; PF07707 BACK 1 hit; … ticket checker job description