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 … WebSep 4, 2002 · By replacing sequences separating the transcription factor binding sites with randomized sequences of the same length, sets of new promoters with different strengths, spanning a 10-fold range of transcriptional activity in cell culture, was obtained. ... which encodes the gigaxonin protein. Gigaxonin is involved in the regulation, turnover, and ...
GAN gene: MedlinePlus Genetics
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 function of gigaxonin causes giant axonal neuropathy (GAN), an autosomal recessive disorder. The GAN gene has more than 50 distinct loss of function mutations that cause the disorder. 3 … 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 … nursery workers arrested 2022
UniProt
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 ... WebProtein knowledgebase. UniParc. Sequence archive. Help. Help pages, FAQs, UniProtKB manual, documents, news archive and Biocuration projects. UniRef. Sequence clusters. Proteomes. Protein sets from fully sequenced genomes. Annotation systems. Systems used to automatically annotate proteins with high accuracy: WebDistantly related proteins sharing a similar domain organization have various functions associated with the cytoskeleton, predicting that gigaxonin is a novel and distinct … nursery worker education requirements