GAN
Homo sapiens
Gene Name: Gigaxonin
Aliases: FLJ38059, GAN1, KLHL16
Chromosome No: 16
Chromosome Band: 16q23.2
Genetic Category: Rare single gene variant
Aliases: FLJ38059, GAN1, KLHL16
Chromosome No: 16
Chromosome Band: 16q23.2
Genetic Category: Rare single gene variant
Summary Statistics:
ASD Reports: 3
Recent Reports: 0
Annotated variants: 3
Associated CNVs: 11
Evidence score: 2
ASD Reports: 3
Recent Reports: 0
Annotated variants: 3
Associated CNVs: 11
Evidence score: 2
| Associated Disorders: |
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Relevance to Autism
Single nucleotide polymorphism (SNP) array analysis showed a de novo 280 kb deletion on chromosome 16q23.2 involving the GAN gene in a girl with ASD and developmental delay.
Molecular Function
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).
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Haploinsufficiency of CMIP in a girl with autism spectrum disorder and developmental delay due to a de novo deletion on chromosome 16q23.2.
ASD
DD
Support
De Novo Damaging DNA Coding Mutations Are Associated With Obsessive-Compulsive Disorder and Overlap With Tourette's Disorder and Autism.
OCD
