ALB

Chr 4ADAR

albumin

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

NCBI Gene: 213ENSG00000163631UniProt: Q8TES7OMIM: 103600

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]

OMIMResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

?[Dysalbuminemic hypertriiodothyroninemia]MIM #615999
ADAR
[Dysalbuminemic hyperthyroxinemia]MIM #615999
ADAR
AnalbuminemiaMIM #616000
AR

Clinical highlights

Gene-disease validity (ClinGen)
hyperthyroxinemia, familial dysalbuminemic · ADModerateconsider for supplementary testing2 gene-disease associations curated in total
Interpreting a novel variant
This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.
12
Active trials
1905
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.39
LOEUF
GOF
Mechanism· predicted

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

ClinVar Variant Classifications

0 submitted variants in ClinVar

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.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov
Metastatic Castration-sensitive Prostate Cancer

A Study of Niraparib in Combination With Abiraterone Acetate and Prednisone Versus Abiraterone Acetate and Prednisone for the Treatment of Participants With Deleterious Germline or Somatic Homologous Recombination Repair (HRR) Gene-Mutated Metastatic Castration-Sensitive Prostate Cancer (mCSPC)

ACTIVE NOT RECRUITING
NCT04497844Phase PHASE3Janssen Research & Development, LLCStarted 2020-09-23
Niraparib+ Abiraterone acetate fixed dose combination (FDC)Abiraterone acetate (AA)Prednisone
Anatomic Stage II Breast Cancer AJCC v8Anatomic Stage IIA Breast Cancer AJCC v8Anatomic Stage IIB Breast Cancer AJCC v8

CompassHER2-pCR: Decreasing Chemotherapy for Breast Cancer Patients After Pre-surgery Chemo and Targeted Therapy

ACTIVE NOT RECRUITING
NCT04266249Phase PHASE2ECOG-ACRIN Cancer Research GroupStarted 2020-03-13
DocetaxelLumpectomyMastectomy
Fabry Disease

Fabry Disease Registry & Pregnancy Sub-registry

RECRUITING
NCT00196742Genzyme, a Sanofi CompanyStarted 2001-07-31
Fabry Disease

Natural History in Fabry Disease With IVS4+919G>A Mutations

ACTIVE NOT RECRUITING
NCT07506083Chinese University of Hong KongStarted 2022-10-20
Advanced Pancreatic CarcinomaMetastatic Pancreatic CarcinomaStage II Pancreatic Cancer AJCC v8

A Phase II Nationwide, Fully Decentralized, Telemedicine Study of Pemigatinib in Adult Patients With Advanced or Metastatic Pancreatic Cancer With FGFR Genetic Alterations

RECRUITING
NCT06906562Phase PHASE2Sameek RoychowdhuryStarted 2025-08-26
PemigatinibComputed Tomography (CT)Magnetic Resonance Imaging
Severe Combined Immunodeficiency (SCID)Leaky SCIDOmenn Syndrome

Natural History Study of SCID Disorders

ENROLLING BY INVITATION
NCT01186913National Institute of Allergy and Infectious Diseases (NIAID)Started 2010-09-02
Chronic Kidney Disease (Stage 3-4)

Effects of Maqui Supplementation on Gut Microbiota, Inflammation, and Oxidative Stress in Patients With Chronic Kidney Disease

NOT YET RECRUITING
NCT07776925Phase NAUniversidad MayorStarted 2026-09-10
maqui supplementationPLA
Advanced or Metastatic Solid TumorPancreatic Ductal AdenocarcinomaColorectal Cancer

AB122 Platform Study

RECRUITING
NCT04999761Phase PHASE1Taiho Pharmaceutical Co., Ltd.Started 2021-06-01
AB122AB122TAS-116
Systemic SclerosisScleroderma

Determine Effectiveness of Anifrolumab In SYstemic Sclerosis (DAISY)

ACTIVE NOT RECRUITING
NCT05925803Phase PHASE3AstraZenecaStarted 2023-11-08
Anifrolumab (blinded)Placebo (blinded)Anifrolumab (unblinded, open label)
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
Obesity, AbdominalAdiposity

Transcriptional Changes in Isolated Human Adipocytes During Obesity

ENROLLING BY INVITATION
NCT06907212University of Southern DenmarkStarted 2023-04-01
Open Angle Glaucoma (OAG)NAION( Non-arteritic Anterior Ischemic Optic Neuropathy)

Evaluating ER-100 for Safety in People With Glaucoma or Non-Arteritic Anterior Ischemic Optic Neuropathy (Optic Nerve Conditions)

RECRUITING
NCT07290244Phase PHASE1Life Biosciences Inc.Started 2026-03-02
ER-100 epigenetic therapy

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