GNE
Chr 9ARADglucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase
Also known as: DMRV, GLCNE, IBM2, NM, THC12, Uae1
This bifunctional enzyme initiates and regulates the biosynthesis of N-acetylneuraminic acid, serving as the rate-limiting enzyme in the sialic acid biosynthetic pathway that is crucial for cell surface molecule function in adhesion and signal transduction. Mutations cause autosomal recessive Nonaka myopathy and inclusion body myopathy, autosomal dominant sialuria, and thrombocytopenia with or without myopathy. The pathogenic mechanism involves disrupted sialylation of cell surface molecules due to impaired sialic acid biosynthesis.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Moderately missense-constrained (top ~2.5%)
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
GNE · 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
Follow-up Gene Therapy Trial for the Treatment of X-linked Retinitis Pigmentosa Associated With Variants in the RPGR Gene
ACTIVE NOT RECRUITINGStudy of Telisotuzumab Vedotin (ABBV-399) in Participants With Previously Treated c-Met+ Non-Small Cell Lung Cancer
ACTIVE NOT RECRUITINGEfficacy and Safety Comparison of Niraparib to Placebo in Participants With Human Epidermal Growth Factor 2 Negative (HER2-) Breast Cancer Susceptibility Gene Mutation (BRCAmut) or Triple-Negative Breast Cancer (TNBC) With Molecular Disease
ACTIVE NOT RECRUITINGA Study to Evaluate Efficacy, Safety, Tolerability and Exposure After a Repeat-dose of Sepofarsen (QR-110) in LCA10 (ILLUMINATE)
ACTIVE NOT 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)
RECRUITINGA Study to Evaluate How Apitegromab Works in Subjects Who Are Less Than 2 Years Old and Have Spinal Muscular Atrophy
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)
RECRUITINGOlaparib Treatment in BRCA Mutated Ovarian Cancer Patients After Complete or Partial Response to Platinum Chemotherapy
ACTIVE NOT RECRUITINGLong-Term Follow-up Protocol for Participants Treated With Gene-Modified T Cells
RECRUITINGEarly PrEgnancy Complications Testing
RECRUITINGIvosidenib in Participants With Locally Advanced or Metastatic Conventional Chondrosarcoma Untreated or Previously Treated With 1 Systemic Treatment Regimen
RECRUITINGExternal Resources
Links to major genomics databases and tools