GAN Gene - GeneCards | GAN Protein | GAN Antibody
2024年10月2日 · NCBI Gene Summary for GAN Gene. This gene encodes a member of the cytoskeletal BTB/kelch (Broad-Complex, Tramtrack and Bric a brac) repeat family. The encoded protein plays a role in neurofilament architecture and is involved in mediating the ubiquitination and degradation of some proteins.
Giant Axonal Neuropathy: Everything You Need to Know - Healthline
2023年12月5日 · Giant axonal neuropathy (GAN) is a very rare, inherited disorder. It affects your nerve cells. After a while, it affects your entire nervous system.
Intrathecal Gene Therapy for Giant Axonal Neuropathy
2024年3月20日 · Giant axonal neuropathy is a rare, autosomal recessive, pediatric, polysymptomatic, neurodegenerative disorder caused by biallelic loss-of-function variants in GAN, the gene encoding...
Giant axonal neuropathy - MedlinePlus
Giant axonal neuropathy is caused by mutations in the GAN gene, which provides instructions for making a protein called gigaxonin. Gigaxonin is part of the ubiquitin-proteasome system, which is a process that identifies and gets rid of excess or damaged proteins within cells.
Giant Axonal Neuropathy - BrainFacts
Giant axonal neuropathy (GAN) is a rare inherited genetic disorder that affects both the central and peripheral nervous systems. The majority of children with GAN will begin to show symptoms of the disease sometime before five years of age.
GAN gigaxonin [Homo sapiens (human)] - Gene - NCBI
Title: A review of gigaxonin mutations in giant axonal neuropathy (GAN) and cancer. A novel sequence alteration in the gene GAN, c.103G > T, was identified as most likely the underlying cause for a sensory-motor axonal neuropathy in a large consanguineous family presenting as Charcot-Marie-Tooth disease type 2.
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.
Experimental gene therapy for giant axonal neuropathy shows …
2024年3月20日 · An investigational gene therapy for a rare neurodegenerative disease that begins in early childhood, known as giant axonal neuropathy (GAN), was well tolerated and showed signs of therapeutic benefit in a clinical trial led by the National Institutes of Health (NIH).
GAN Gene | Encyclopedia MDPI
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.
GAN protein expression summary - The Human Protein Atlas
This gene encodes a member of the cytoskeletal BTB/kelch (Broad-Complex, Tramtrack and Bric a brac) repeat family. The e ncoded protein plays a role in neurofilament architecture and is involved in mediating the ubiquitination and degradation of some proteins.
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