Variant: rs1310137430 

    present in Gene: GAN
    present in Chromosome: 16
    Position on Chromosome: 81351651
    Alleles of this Variant: C/T

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).