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Disease Info Card
Refsum Disease
Information about Refsum Disease: characteristics, related genes and pathways, plus antibodies you can use for research. This page is being enriched constantly, if you see some information you would like this page to include please send your suggestions to us.
Overview of Refsum Disease
Most recent studies have shown that Refsum Disease shares some biological mechanisms with adrenoleukodystrophy, adrenoleukodystrophy-neonatal, ataxia, chondrodysplasia-punctata, chondrodysplasia-punctata-rhizomelic, complete-hearing-loss, diffuse-cerebral-sclerosis-of-schilder, disorders-of-peroxisome-biogenesis, ichthyoses, inborn-errors-of-metabolism, infantile-refsum-disease-(disorder), metabolic-diseases, nervous-system-disorder, peroxisomal-disorders, polyneuropathy, retinitis-pigmentosa, zellweger-syndrome.
Among the many pathways, these few ones have gauged particular interests from scientists studying Refsum Disease, and have been seen in publications frequently: Cell Cycle, Cell Death, Cell Proliferation, Cognition, Cornification, Dna Repair, Electron Transport, Excretion, Fatty Acid Beta-oxidation, Fatty Acid Oxidation, Keratinization, Lipid Storage, Localization, Mitochondrial Depolarization, Myelination, Pathogenesis, Pigmentation, Protein Import, Transport, Urea Cycle
Quite a number of genes have been found to play important roles in Refsum Disease, such as AAAS, ABCD1, AMACR, CAT, CSF2, GNPAT, HSD17B4, LAMC2, PEX1, PEX10, PEX13, PEX2, PEX7, PHEX, PHYH, PHYHIP, ZNF260. See what Boster has to offer for the research of these genes by clicking the gene name links below and view a more detailed info card/product listing for that gene.
In a later update, we will include information such as current drugs and therapy solutions as well as on-going and past clinical trials for this disease. Plesae stay updated.