GAN

Chr 16AR

gigaxonin

Also known as: GAN1, GIG, KLHL16

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]

OMIMResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Giant axonal neuropathy-1MIM #256850
AR

Clinical highlights

Gene-disease validity (ClinGen)
giant axonal neuropathy 1 · ARDefinitivesufficient evidence for diagnostic panels
Interpreting a novel variant
Loss of function is the curated mechanism (Gene2Phenotype) and the gene is intolerant of it in the population — truncating, frameshift and canonical splice variants carry more prior weight here than missense.Curated gene-level mechanism — a prior for triage, not a per-variant call.
12
Active trials
2003
Pubs (1 yr)
P/LP submissions
P/LP missense
0.50
LOEUF
LOF
Mechanism· G2P
  • scAAV9/JeT-GAN
    AAV gene therapyPhase 1

    Intrathecal delivery of the GAN gene.

    Delivery: Intrathecal

Therapeutic landscape as of 2026-07. Educational only. Investigational ≠ available; not medical advice or eligibility. Approved entries are precise; investigational program names/phases are conservative and move fast. Curated from FDA/EMA approvals and the clinical-trial literature; verify against current labeling + ClinicalTrials.gov.

ClinicalTrials.gov

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Moderate LoF intolerance
LoF Constraint?
0.50LOEUF
pLI 0.025
Z-score 3.71
OE 0.29 (0.170.50)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?
-0.73Z-score
OE missense 1.11 (1.021.21)
367 obs / 329.9 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.29 (0.170.50)
00.351.4
Missense OE?1.11 (1.021.21)
00.61.4
Synonymous OE?1.55
01.21.6
LoF obs/exp: 9 / 31.4Missense obs/exp: 367 / 329.9Syn Z: -4.74

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.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

Seasonal Allergic RhinitisSAR

A Phase III Study to Assess the Efficacy and Safety of PG-011 Nasal Spray in Adults With Moderate to Severe Seasonal Allergic Rhinitis

NOT YET RECRUITING
NCT07146126Phase PHASE3Prime Gene Therapeutics Co., Ltd.Started 2025-09-15
PG-011 nasal spray 0.6%(twice daily)Placebo
Acute Myeloid LeukemiaAcute Lymphoblastic LeukemiaMixed Lineage Acute Leukemia

A Study of Revumenib in R/R Leukemias Including Those With an MLL/KMT2A Gene Rearrangement or NPM1 Mutation

RECRUITING
NCT04065399Phase PHASE1, PHASE2Syndax PharmaceuticalsStarted 2019-11-05
revumenibcobicistat
Mitochondrial DiseasesPearson Syndrome

Evaluate the Safety and Therapeutic Effects of a Single Intravenous Infusion (IV) of Autologous CD34+ Cells Enriched With Allogenic Placenta-derived Mitochondria in Patients With a Diagnosis of Pearson Syndrome (PS)

RECRUITING
NCT06017869Phase PHASE2Minovia Therapeutics Ltd.Started 2023-07-31
MNV-201
Non-Allergic Rhinitis With Eosinophilia Syndrome

Efficacy and Safety of Stapokibart in Non-Allergic Rhinitis With Eosinophilia Syndrome

NOT YET RECRUITING
NCT07240376Phase NAHuazhong University of Science and TechnologyStarted 2025-11-25
Stapokibart (CM310)Placebo
Neovascular Age-Related Macular Degeneration (nAMD)

Single Intravitreal (IVT) Injection of 4D-150 in Patients With Macular Neovascularization Secondary to Age-Related Macular Degeneration

RECRUITING
NCT07064759Phase PHASE34D Molecular TherapeuticsStarted 2025-07-22
4D-150 IVT (3E10 vg/eye)EYLEA® (aflibercept) Injection 2 mg (0.05mL)
Breast NeoplasmsTriple Negative Breast NeoplasmsHR Low-Positive/HER2-Negative Breast Neoplasms

A Clinical Study of Sacituzumab Tirumotecan (Sac-TMT, MK-2870) in People With Breast Cancer (MK-2870-032)

RECRUITING
NCT06966700Phase PHASE3Merck Sharp & Dohme LLCStarted 2025-06-30
Sacituzumab tirumotecanPembrolizumabRescue Medication
Prostate Cancer

A Study of Metastases Free Survival With Saruparib vs Placebo Added to a Standard RT/ADT in Men With High-risk Prostate Cancer With a BRCA Mutation

RECRUITING
NCT06952803Phase PHASE3AstraZenecaStarted 2025-08-06
SaruparibPlaceboAbiraterone + Prednisolone/Prednisone
HER2-Gastric/Gastroesophageal Junction CancerUrothelial CarcinomaNon-Small Cell Lung Cancer

A Phase 2 Clinical Study of ABSK061 and ABSK043

RECRUITING
NCT06632262Phase PHASE2Abbisko Therapeutics Co, LtdStarted 2024-11-13
ABSK061 + ABSK043ABSK061+ABSK043 in combination with CAPOX
COPD

Respiratory Muscles in End-stage Lung Disease: Pathophysiological Processes & Clinical Consequences

RECRUITING
NCT06935825University Medical Center GroningenStarted 2025-09-01
Non-Small Cell Lung Cancer

Study of MCLA-129 in the Treatment of Advanced Non-small Cell Lung Cancer with AGA and MET Amplification.

NOT YET RECRUITING
NCT06885840Phase PHASE2Betta Pharmaceuticals Co., Ltd.Started 2025-03-31
MCLA-129
Non-Small Cell Lung Cancer

Phase II Umbrella Study of Novel Anti-cancer Agents in Participants With NSCLC Who Progressed on an Anti-PD-1/PD-L1 Containing Therapy

ACTIVE NOT RECRUITING
NCT03334617Phase PHASE2AstraZenecaStarted 2017-12-18
DurvalumabDanvatirsenCeralasertib
X-Linked Hypophosphatemia

Registry for Patients With X-Linked Hypophosphatemia

RECRUITING
NCT03193476Kyowa Kirin Pharmaceutical Development LtdStarted 2017-09-12