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.

Mar 30, 2025 · GAN (Gigaxonin) is a Protein Coding gene. Diseases associated with GAN include Giant Axonal Neuropathy 1, Autosomal Recessive and Giant Axonal Neuropathy 1 . Among its related pathways are Class I MHC mediated antigen …

Jan 9, 2003 · GAN-related neurodegeneration, caused by biallelic GAN pathogenic variants, encompasses a phenotypic continuum ranging from classic giant axonal neuropathy (GAN) – a neurodegenerative disorder affecting both the peripheral and central nervous systems at the severe end – to milder phenotypes with early-onset peripheral motor and sensory ...

Giant axonal neuropathy (GAN) is a neurodegenerative disorder characterized by abnormally large and dysfunctional axons (the specialized extensions of nerve cells that are required for the transmission of nerve impulses).

Gigaxonin also known as kelch-like protein 16 is a protein that in humans is encoded by the GAN gene. [4][5][6] Gigaxonin is a member of the cytoskeletal BTB / kelch (Broad-Complex, Tramtrack and Bric a brac) repeat family. (Kelch repeats are predicted to form a beta-propeller shape.)

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 (GAN) is an inherited neurodegenerative disorder caused by mutations in the GAN gene. It affects both the central and peripheral nervous systems. We discuss clinical, electrophysiological, radiological and genetic features in three new unrelated patients with GAN.

Dec 5, 2023 · Giant axonal neuropathy (GAN) is a very rare, inherited disorder. It affects your nerve cells. After a while, it affects your entire nervous system. You may experience difficulty...

Mar 20, 2024 · The gene therapy uses a modified virus to deliver functional copies of the defective GAN gene to nerve cells in the body. It is the first time a gene therapy has been administered directly into the spinal fluid, allowing it to target the motor and sensory neurons affected in GAN.

Gigaxonin, the product of GAN gene localized to chromosome 16, is associated with the early onset neuronal degeneration disease giant axonal neuropathy (GAN). Gigaxonin is an E3 ubiquitin ligase adaptor protein involved in intermediate filament processing in neural cells, and vimentin filaments in f …