GAN
Chr 16ARgigaxonin
Also known as: GAN1, GIG, KLHL16
The protein functions as a cytoskeletal component that maintains neurofilament architecture and acts as a substrate-specific adapter for ubiquitin-mediated degradation of neuronal proteins including MAP1B and TBCB. Mutations cause giant axonal neuropathy-1, a progressive neurodegenerative disorder that typically presents in early childhood with peripheral neuropathy and distinctive giant axons containing neurofilament accumulations. This condition follows autosomal recessive inheritance.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Tolerant to missense variation
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
GAN · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
A Study to Evaluate the Efficacy and Safety of TL118 in Solid Tumors Patients
RECRUITINGStudy of Telisotuzumab Vedotin (ABBV-399) in Participants With Previously Treated c-Met+ Non-Small Cell Lung Cancer
ACTIVE NOT RECRUITINGInvestigating Multigene Methylation Dynamics in Treatment Response Surveillance for Esophageal Carcinoma
RECRUITINGSacituzumab Tirumotecan (MK-2870) Versus Chemotherapy in Previously Treated Advanced or Metastatic Nonsquamous Non-small Cell Lung Cancer (NSCLC) With EGFR Mutations or Other Genomic Alterations (MK-2870-004)
RECRUITINGHuman Umbilical Cord-derived Mesenchymal Stem Cells for Decompensated Cirrhosis (MSC-DLC-2)
RECRUITINGDetermine Effectiveness of Anifrolumab In SYstemic Sclerosis (DAISY)
ACTIVE NOT RECRUITINGA Study of Bleximenib, Venetoclax and Azacitidine For Treatment of Participants With Newly Diagnosed Acute Myeloid Leukemia (AML)
RECRUITINGStudy to Assess the Injection Burden, Adverse Events, Change in Disease Activity, and Long-Term Preservation of Visual Acuity of Surabgene Lomparvovec in Adult Participants With Neovascular Age-Related Macular Degeneration (nAMD)
RECRUITINGA Study to Evaluate the Effectiveness and Safety of Inavolisib in Participants With Endocrine-resistant, PIK3CA-mutated, Hormone Receptor-positive, HER2-negative Locally Advanced or Metastatic Breast Cancer
RECRUITINGA Clinical Trial of TQB2102 for Injection in Non-small Cell Lung Cancer With HER2 Gene Abnormality
RECRUITINGOlaparib Treatment in BRCA Mutated Ovarian Cancer Patients After Complete or Partial Response to Platinum Chemotherapy
ACTIVE NOT RECRUITINGA Translational Study for Phenotyping and Endotyping Chinese Patients With NCFBE
RECRUITINGExternal Resources
Links to major genomics databases and tools