GAN

Chr 16

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]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtGiant axonal neuropathy 1, autosomal recessive

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
2001
Pubs (1 yr)
P/LP submissions
P/LP missense
0.50
LOEUF
LOF
Mechanism· G2P
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

  • 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

Metastatic Castration-sensitive Prostate Cancer

A Study of Niraparib in Combination With Abiraterone Acetate and Prednisone Versus Abiraterone Acetate and Prednisone for the Treatment of Participants With Deleterious Germline or Somatic Homologous Recombination Repair (HRR) Gene-Mutated Metastatic Castration-Sensitive Prostate Cancer (mCSPC)

ACTIVE NOT RECRUITING
NCT04497844Phase PHASE3Janssen Research & Development, LLCStarted 2020-09-23
Niraparib+ Abiraterone acetate fixed dose combination (FDC)Abiraterone acetate (AA)Prednisone
Myotonic Dystrophy

A Study to Investigate the Safety, Tolerability, and Efficacy of SAR446268, an Adeno-associated Viral Vector-mediated Gene Therapy in Participants Aged 10 to 55 Years of Age With Non-congenital Myotonic Dystrophy Type 1

RECRUITING
NCT06844214Phase PHASE1, PHASE2SanofiStarted 2025-07-23
SAR446268
Solid Tumor

A Study to Evaluate the Efficacy and Safety of TL118 in Solid Tumors Patients

RECRUITING
NCT06010342Phase PHASE2Teligene USStarted 2023-03-16
TL118 Capsule
Systemic SclerosisScleroderma

Determine Effectiveness of Anifrolumab In SYstemic Sclerosis (DAISY)

ACTIVE NOT RECRUITING
NCT05925803Phase PHASE3AstraZenecaStarted 2023-11-08
Anifrolumab (blinded)Placebo (blinded)Anifrolumab (unblinded, open label)
Upper Respiratory Tract Infections

Study of the Preventive Effects and Mechanisms of Yeast β-Glucan on Upper Respiratory Tract Infections

NOT YET RECRUITING
NCT07085858Phase NALanZhou UniversityStarted 2025-07-25
yeast β-glucanplacebo
Hemophilia A

A Long-Term Follow-Up Study in Severe Hemophilia A Subjects Who Received BMN 270 in a Prior BioMarin Clinical Trial (270-401)

ENROLLING BY INVITATION
NCT05768386BioMarin PharmaceuticalStarted 2023-01-01
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
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
COPD

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

RECRUITING
NCT06935825University Medical Center GroningenStarted 2025-09-01
Transthyretin AmyloidosisATTR-CMATTRv-PN

Non-interventional Study of Patients With Transthyretin (ATTR) Amyloidosis

RECRUITING
NCT06465810AstraZenecaStarted 2024-06-25
Treatment of transthyretin (ATTR) amyloidosis in observational study setting
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)
Advanced Solid Neoplasms

Efficacy and Safety of Olaparib (MK-7339) in Participants With Previously Treated, Homologous Recombination Repair Mutation (HRRm) or Homologous Recombination Deficiency (HRD) Positive Advanced Cancer (MK-7339-002 / LYNK-002)

ACTIVE NOT RECRUITING
NCT03742895Phase PHASE2Merck Sharp & Dohme LLCStarted 2018-12-12
Olaparib