Gene: GAN

Alternate names for this Gene: GAN1|GIG|KLHL16

Gene Summary: 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).

Gene is located in Chromosome: 16

Location in Chromosome : 16q23.2

Description of this Gene: gigaxonin

Type of Gene: protein-coding

rs142313660 in GAN gene and Forced expiratory volume function PMID 26634245 2015 A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry.

rs1310137430 in GAN gene and GIANT AXONAL NEUROPATHY 1 PMID 12655563 2003 Identification of seven novel mutations in the GAN gene.

PMID 11062483 2000 The gene encoding gigaxonin, a new member of the cytoskeletal BTB/kelch repeat family, is mutated in giant axonal neuropathy.

PMID 16303566 2005 Gigaxonin interacts with tubulin folding cofactor B and controls its degradation through the ubiquitin-proteasome pathway.

PMID 11971098 2002 Giant axonal neuropathy (GAN): case report and two novel mutations in the gigaxonin gene.

PMID 17578852 2007 New mutations, genotype phenotype studies and manifesting carriers in giant axonal neuropathy.

PMID 17587580 2007 Genotype-phenotype analysis in patients with giant axonal neuropathy (GAN).

PMID 14718689 2004 Clinical and molecular findings in patients with giant axonal neuropathy (GAN).

PMID 23890932 2014 The absence of curly hair is associated with a milder phenotype in Giant Axonal Neuropathy.

PMID 23248352 2013 We report a novel compound heterozygous mutation with the c. 805C>T in exon 4(Arg545His missense mutation) and the c. 1634G>A in exon 11(Arg269Trp missense mutation) in an 11-year-old Chinese giant axonal neuropathy case.

rs1555511101 in GAN gene and Movement Disorders PMID 19231187 2009 Phenotypic variability in giant axonal neuropathy.

PMID 2153943 1990 Giant axonal neuropathy with inherited multisystem degeneration in a Tunisian kindred.

PMID 17256086 2007 Giant axonal neuropathy.

PMID 11053687 2000 Charcot-Marie-Tooth 2-like presentation of an Algerian family with giant axonal neuropathy.