ALB

Chr 4ADAR

albumin

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

NCBI Gene: 213 ENSG00000163631 UniProt: Q8TES7 OMIM: 103600

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.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

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]

OMIM ResearchGenerating clinical summary…

GOFmechanismAD/ARLOEUF 0.393 OMIM phenotypes

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

20 unique Pathogenic / Likely Pathogenic· 96 VUS of 201 total submissions

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Clinical Trials

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

Explore recent and relevant literature in Research Assistant →

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Moderate LoF intolerance

LoF Constraint?

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?

0.66Z-score

OE missense 0.90 (0.81–0.99)

288 obs / 321.1 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.21 (0.12–0.39)

0≤0.351.4

Missense OE?0.90 (0.81–0.99)

0≤0.61.4

Synonymous OE?1.11

0≤1.21.6

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

This gene — mechanism propensity

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.1

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

References

1.PMID 34142517 ↗

ClinVar Variant Classifications

201 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic19

Likely Pathogenic1

VUS96

Likely Benign33

Benign16

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	12	7	0	0	19
Likely Pathogenic	1	0	0	0	1
VUS	1	80	7	8	96
Likely Benign	0	5	14	14	33
Benign	1	2	9	4	16
Conflicting	—				7
Total	15	94	30	26	172

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

View in ClinVar →

24 pathogenic / likely-pathogenic (of 27) ClinVar copy-number / structural variants overlap ALB — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →

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

Platinum SensitiveBRCA MutatedRelapsed Ovarian Cancer

Olaparib Treatment in BRCA Mutated Ovarian Cancer Patients After Complete or Partial Response to Platinum Chemotherapy

ACTIVE NOT RECRUITING

NCT01874353Phase PHASE3AstraZenecaStarted 2013-09-03

Olaparib 300mg tabletsPlacebo to match olaparib 300mg

Sickle Cell Disease

Efficacy Safety Study of Gene Therapy for Sickle Cell DiseaseSCD Using Autologous CD34+ Cells Transduced ex Vivo, Carrying a Corrected Globin Gene and a Silencing RNA.

RECRUITING

NCT07432867Phase PHASE1, PHASE2Assistance Publique - Hôpitaux de ParisStarted 2026-02-25

DREAM01 drug productanti-inflammatory therapy

Acute Graft Versus Host DiseaseHematopoietic and Lymphatic System NeoplasmLeukemia

Lactobacillus Plantarum in Preventing Acute Graft Versus Host Disease in Children Undergoing Donor Stem Cell Transplant

ACTIVE NOT RECRUITING

NCT03057054Phase PHASE3Children's Oncology GroupStarted 2018-04-30

Allogeneic Hematopoietic Stem Cell TransplantationLactobacillus plantarum strain 299Lactobacillus plantarum strain 299v

Muscle Invasive Bladder Cancer

Open-Label, Randomised, Multi-Drug, Biomarker-Directed, Phase 1b Study in Pts w/ Muscle Invasive Bladder Cancer

ACTIVE NOT RECRUITING

NCT02546661Phase PHASE1AstraZenecaStarted 2016-12-28

AZD4547MEDI4736Olaparib

Peripheral Arterial Disease

Effects of Carnosine In Patients With Peripheral Arterial Disease Patients

RECRUITING

NCT06480760Phase PHASE1, PHASE2Shahid BabaStarted 2025-05-20

Carnosine

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

DysbiosisCardiometabolic Health Indicators

Almonds, Gut Microbiome and Kids

RECRUITING

NCT07636850Phase NAFlorida State UniversityStarted 2026-08-01

Creamy Richards 100% Almonds! Creamy Natural Almond ButterCadbury Milk Chocolate Spread

Breast Cancer Early Stage Breast Cancer (Stage 1-3)Prehabilitation

Multimodal Prehabilitation Program That Combines Physical Exercise, Psychological Intervention and Nutritional Support to Improve the Response to Neoadjuvant Chemoterhapy in Early Breast Cancer Patients

RECRUITING

NCT07107594Phase NAHospital Clinic of BarcelonaStarted 2025-01-14

Multimodal prehabilitation

PFIC - Progressive Familial Intrahepatic CholestasisAlagille Syndrome (ALGS)Cholestasis, Intrahepatic

Pediatric Evaluation and Registry for Liver Cholestasis in Canada

RECRUITING

NCT07411716Children's Hospital of Eastern OntarioStarted 2026-04-21

Prostate Cancer

Study of Talazoparib With Enzalutamide in Men With DDR Gene Mutated mCSPC

ACTIVE NOT RECRUITING

NCT04821622Phase PHASE3PfizerStarted 2021-05-12

talazoparib plus enzalutamidePlacebo plus enzalutamide