ALB
Chr 4ADARalbumin
Albumin regulates blood plasma colloid osmotic pressure and serves as a carrier protein for hormones, fatty acids, metabolites, and drugs. Mutations cause analbuminemia, dysalbuminemic hyperthyroxinemia, and dysalbuminemic hypertriiodothyroninemia with both autosomal dominant and autosomal recessive inheritance patterns. The gene shows significant constraint against loss-of-function variants, indicating its essential physiological role.
Moderate evidence — consider for supplementary testing
2 total gene-disease associations curated
Some data sources returned errors (1)
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Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
The highest-scoring mechanism for this gene is gain-of-function.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Literature Evidence
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
ALB · 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
Diagnostic and Therapeutic Applications of Microarrays in Liver Transplantation
RECRUITINGThe Canadian Lung Outcomes in Users of Vaping Devices Study
RECRUITINGStandard or Comprehensive Radiation Therapy in Treating Patients With Early-Stage Breast Cancer Previously Treated With Chemotherapy and Surgery
ACTIVE NOT RECRUITINGEarly Life Malnutrition, Environmental Enteric Dysfunction and Microbiome Trajectories
RECRUITINGEvaluating ER-100 for Safety in People With Glaucoma or Non-Arteritic Anterior Ischemic Optic Neuropathy (Optic Nerve Conditions)
RECRUITINGA Study of Osimertinib With or Without Chemotherapy as 1st Line Treatment in Patients With Mutated Epidermal Growth Factor Receptor Non-Small Cell Lung Cancer (FLAURA2)
ACTIVE NOT RECRUITINGA Study to Learn About the Study Medicine PF-07934040 When Given Alone or With Other Anti-cancer Therapies in People With Advanced Solid Tumors That Have a Genetic Mutation.
RECRUITINGA Feasibility Study of Optimal Non-Pharmacological Lifestyle Modifications in People With Type 2 Diabetes
RECRUITINGSelpercatinib for the Treatment of Advanced Solid Tumors, Lymphomas, or Histiocytic Disorders With Activating RET Gene Alterations, a Pediatric MATCH Treatment Trial
ACTIVE NOT RECRUITINGOpen-Label, Randomised, Multi-Drug, Biomarker-Directed, Phase 1b Study in Pts w/ Muscle Invasive Bladder Cancer
ACTIVE NOT RECRUITINGCanadian Profiling and Targeted Agent Utilization Trial (CAPTUR)
RECRUITINGThe PLATINUM Trial: Optimizing Chemotherapy for the Second-Line Treatment of Metastatic BRCA1/2 or PALB2-Associated Metastatic Pancreatic Cancer
ACTIVE NOT RECRUITINGExternal Resources
Links to major genomics databases and tools