GFAP
Chr 17glial fibrillary acidic protein
Also known as: ALXDRD
This gene encodes one of the major intermediate filament proteins of mature astrocytes. It is used as a marker to distinguish astrocytes from other glial cells during development. Mutations in this gene cause Alexander disease, a rare disorder of astrocytes in the central nervous system. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Oct 2008]
Primary Disease Associations & Inheritance
Definitive — sufficient evidence for diagnostic panels
Some data sources returned errors (2)
clinvar: Error: NCBI fetch failed: 429 https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi
omim: Error: OMIM fetch failed: 429
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
ClinVar Variant Classifications
294 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 1 | 6 | 2 | 0 | 9 |
Likely Pathogenic | 1 | 9 | 1 | 0 | 11 |
VUS | 13 | 128 | 20 | 0 | 161 |
Likely Benign | 0 | 10 | 19 | 43 | 72 |
Benign | 0 | 4 | 20 | 4 | 28 |
Conflicting | — | 13 | |||
| Total | 15 | 157 | 62 | 47 | 294 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
GFAP · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
Gene2Phenotype Curations
GFAP-related Alexander disease
definitiveGene2Phenotype curations · DECIPHER consortium patient cohort (public variants) · deciphergenomics.org
OMIM — Genotype-Phenotype
No OMIM entries found.
External Resources
Links to major genomics databases and tools
Variant Interpretation
Population Databases
Gene Resources
Expert Curation
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
A Patient-tailored Genetic/Biomarker/iPSC Combined Approach in ALS - PERMEALS
RECRUITINGA Nutritional Intervention for Body, Brain, and Longevity Effects (NIBBLE)
NOT YET RECRUITINGDentatorubral-pallidoluysian Atrophy Natural History and Biomarkers Study
RECRUITINGThis Study Evaluates the Safety, Target Engagement, and Preliminary Efficacy of Galunisertib (TGF-βR1/ALK5 Inhibitor)Combined With Nerandomilast (PDE4 Inhibitor) in GREM2-positive ALS, a Biomarker-defined Subgroup Hypothesized to Reflect Heightened TGF-β/SMAD-driven Astrocytic and Fibrotic Signaling
NOT YET RECRUITINGAn Innovative Method in SAliva Samples for the Early Differential Diagnosis of High-impact NeuroDegenerative Diseases Through Raman Spectroscopy
ENROLLING BY INVITATIONEstablish Diagnostic and Prognostic Models for Preclinical AD Patients Based on Multimodal MRI, Behavioral, Genetic, and Plasma Biomarkers
RECRUITINGClinical Study for the Safety and Therapeutic Efficacy of the AI-QMMM Designed TamavaqTM Personalised Vaccine in Patients With Newly Diagnosed Glioma.
RECRUITINGA Phase 2b/3 Clinical Study Evaluating T3D-959 in Mild-to-Moderate Alzheimer's Disease Subjects
NOT YET RECRUITINGSafety and Efficacy of AMT-130 in European Adults With Early Manifest Huntington's Disease
ACTIVE NOT RECRUITINGSafety, Tolerability and Exploratory Efficacy of EC5026 in Parkinson's Disease (STEP Study)
RECRUITINGIdentification of Early Markers for ALS
RECRUITINGDevelopment of a Database to Investigate Digital and Blood-Based Biomarkers and Their Relationship to Tau and Amyloid PET Imaging in Older Participants Who Are Cognitively Normal (CN), Have Mild Cognitive Impairment (MCI), or Have Mild-to-Moderate AD Dementia
RECRUITINGExternal Resources
Links to major genomics databases and tools