ALB

Chr 4ADAR

albumin

Also known as: FDAHT, HSA, PRO0883, PRO0903, PRO1341

NCBI Gene: 213 ENSG00000163631 UniProt: Q8TES7

This gene encodes the most abundant protein in human blood. This protein functions in the regulation of blood plasma colloid osmotic pressure and acts as a carrier protein for a wide range of endogenous molecules including hormones, fatty acids, and metabolites, as well as exogenous drugs. Additionally, this protein exhibits an esterase-like activity with broad substrate specificity. The encoded preproprotein is proteolytically processed to generate the mature protein. A peptide derived from this protein, EPI-X4, is an endogenous inhibitor of the CXCR4 chemokine receptor. [provided by RefSeq, Jul 2016]

Primary Disease Associations & Inheritance

?[Dysalbuminemic hypertriiodothyroninemia]MIM #615999

ADAR

[Dysalbuminemic hyperthyroxinemia]MIM #615999

ADAR

AnalbuminemiaMIM #616000

Active trials

Pathogenic / LP

198

ClinVar variants

Pubs (1 yr)

0.7

Missense Z

0.39

LOEUF

Clinical Summary— ALB

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Gene-Disease Validity (ClinGen)

hyperthyroxinemia, familial dysalbuminemic · ADModerate

Moderate evidence — consider for supplementary testing

2 total gene-disease associations curated

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Population Constraint (gnomAD)

Moderately constrained gene (pLI 0.64) — some intolerance to loss-of-function variants.

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ClinVar Variants

43 Pathogenic / Likely Pathogenic· 99 VUS of 198 total submissions

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Clinical Trials

12 active or recruiting trials — potential therapeutic options may be available

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Moderate LoF intolerance

LoF Constraint?LOEUF (Loss-of-function Observed/Expected Upper bound Fraction) is the upper bound of the 90% CI for LoF OE — the preferred gnomAD v4 metric. Lower = more intolerant to LoF. LOEUF < 0.35 = highly constrained.

0.39LOEUF

pLI 0.643

Z-score 4.29

OE 0.21 (0.12–0.39)

Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?Missense Z-score: standard deviations fewer missense variants observed vs. expected. Z > 3.09 (p < 0.001) = gene does not tolerate missense variation. OE missense < 0.6 is also considered constrained.

0.66Z-score

OE missense 0.90 (0.81–0.99)

288 obs / 321.1 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?Shaded band = 90% confidence interval. Vertical tick = point estimate. Grey threshold line = gnomAD constraint cutoff for that variant class.

LoF OE?Ratio of observed to expected LoF variants. Upper CI bound (LOEUF) ≤ 0.35 = strong LoF constraint signal.0.21 (0.12–0.39)

0≤0.351.4

Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.0.90 (0.81–0.99)

0≤0.61.4

Synonymous OE?Control metric — synonymous variants are largely neutral and expected near OE = 1.0. Significant deviation may indicate annotation issues.1.11

0≤1.21.6

LoF obs/exp: 7 / 34.0Missense obs/exp: 288 / 321.1Syn Z: -0.92

0.11100th %ile

GOF

0.73top 25%

LOF

0.1993th %ile

The highest-scoring mechanism for this gene is gain-of-function.

GOFprediction above median · 1 literature citation

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

GOFFamilial dysalbuminemic hyperthyroxinemia (FDH) is an autosomal dominant condition caused by heterozygous gain-of-function mutations in the human ALB gene.PMID:34142517

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.

ClinVar Variant Classifications

198 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic41

Likely Pathogenic2

VUS99

Likely Benign29

Benign20

Conflicting7

Pathogenic

Likely Pathogenic

VUS

Likely Benign

Benign

Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	LoF	Missense + Inframe	Non-coding	Synonymous	Total
Pathogenic	5	7	29	0	41
Likely Pathogenic	1	0	1	0	2
VUS	1	80	10	8	99
Likely Benign	0	4	12	13	29
Benign	1	3	11	5	20
Conflicting	—				7
Total	8	94	63	26	198

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View 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.

External Resources

Links to major genomics databases and tools

Franklin by Genoox

AI-powered variant curation and clinical analysis

DECIPHER

Genomic variants and phenotypes in rare disease patients

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

Prostate Cancer

Androgen-Deprivation Therapy and Radiation Therapy in Treating Patients With Prostate Cancer

ACTIVE NOT RECRUITING

NCT01368588Phase PHASE3Radiation Therapy Oncology GroupStarted 2011-07

radiation therapyWhole-pelvic radiotherapy (WPRT)

Crohn Disease

Clinical, Imaging, and Endoscopic Outcomes of Children Newly Diagnosed With Crohn's Disease

RECRUITING

NCT05781152Phase PHASE4Connecticut Children's Medical CenterStarted 2023-06-10

Anti-TNF therapy

Critical IllnessSurgeryEnteral Feeding Intolerance

Diluted and Undiluted Enteral Nutrition

NOT YET RECRUITING

NCT06516835Phase NAMedical University of LublinStarted 2025-01-02

Enteral fluidIntravenous fluid

AutismAutism DisorderAutism Spectrum Disorder (ASD)

Role of the Gut Vascular Barrier and Microbiota in Autism Spectrum Disorders

RECRUITING

NCT07450443Phase PHASE2, PHASE3Fondazione I.R.C.C.S. Istituto Neurologico Carlo BestaStarted 2023-03-21

PostbiotiX Comfort®Control

Locally Advanced Cervical CarcinomaConcurrent ChemoradiotherapyImmunotherapy

the Predictive Value of Immune Cell in Locally Advanced Cervical Cancer

RECRUITING

NCT06378840RenJi HospitalStarted 2022-01-01

Nab-paclitaxel/Platinum, Sintilimab

Aging

Morning-Evening Specific Longevity Food Supplement

ACTIVE NOT RECRUITING

NCT07416396Phase PHASE1University of PrimorskaStarted 2026-03-07

Morning- and evening-specific compound food supplementControl

Metastatic Castration-resistant Prostate CancerMetastatic Prostate Cancer

Platinum and Taxane Chemo in Met Castration Resistant Prostate Cancer Patients With Alterations in DNA Damage Response Genes

RECRUITING

NCT06439225Phase PHASE3Canadian Cancer Trials GroupStarted 2024-12-30

DocetaxelCarboplatin

Carcinoma, Pancreatic DuctalColorectal NeoplasmsCarcinoma, Non-Small-Cell Lung

A 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.

RECRUITING

NCT06447662Phase PHASE1PfizerStarted 2024-06-27

PF-07934040GemcitabineNab-paclitaxel

Cognitive DisordersMuscular Disorders, Atrophic

Dietary Strategy to Tackle Cognitive and Locomotor Abilities in Early Elderly Subjects

RECRUITING

NCT06871384Phase NAUniversity Rovira i VirgiliStarted 2025-03-26

Nonalcoholic red wine group (Intervention group)Drinking water group (Control group)

Obesity

Intensive Weight Loss Intervention Versus Usual Care for Adults With Obesity

ACTIVE NOT RECRUITING

NCT06321432Phase NACarsten DirksenStarted 2024-06-05