GAN Antibody – Mouse Monoclonal

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. Defects in this gene are a cause of giant axonal neuropathy (GAN). [provided by RefSeq, Oct 2008]

GAN: Probable cytoskeletal component that directly or indirectly plays an important role in neurofilament architecture. 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. Controls degradation of MAP1B and MAP1S, and is critical for neuronal maintenance and survival. Defects in GAN are the cause of giant axonal neuropathy (GAN). GAN is a severe autosomal recessive sensorimotor neuropathy affecting both the peripheral nerves and the central nervous system. It is characterized by neurofilament accumulation, leading to segmental distention of axons.

Chromosomal Location of Human Ortholog: 16q24.1

Cellular Component: cytoskeleton; cytoplasm

Molecular Function: protein binding

Biological Process: protein ubiquitination

Disease: Giant Axonal Neuropathy 1, Autosomal Recessive