ALB Chromosome 4
Albumin
Upload your DNA to see your personal genotypes for variants in ALB.
What This Gene Does
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]
Gene Info
Gene Group
Albuminoid family
Locus Type
gene with protein product
Location
4q13.3
Ensembl
ENSG00000163631
Associated Conditions (8)
Hyperthyroxinemia
familial dysalbuminemic
Inborn genetic diseases
Analbuminemia
Alloalbuminemia
ALB-related disorder
Analbuminemia Baghdad
ALBUMIN B
Key Variants
RS142714816
Conflicting classifications of pathogenicity
Hyperthyroxinemia, familial dysalbuminemic, Hyperthyroxinemia
Health Risk
RS149432908
Conflicting classifications of pathogenicity
Hyperthyroxinemia, familial dysalbuminemic, Hyperthyroxinemia
Health Risk
RS372174571
Conflicting classifications of pathogenicity
Hyperthyroxinemia, familial dysalbuminemic, Inborn genetic diseases
Health Risk
RS57193077
Conflicting classifications of pathogenicity
Hyperthyroxinemia, familial dysalbuminemic, Hyperthyroxinemia
Health Risk
RS75946332
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS775238949
Conflicting classifications of pathogenicity
Hyperthyroxinemia, familial dysalbuminemic, Hyperthyroxinemia
Health Risk
RS768570250
Likely pathogenic
Analbuminemia, Analbuminemia
Health Risk
RS1577939845
Pathogenic
Analbuminemia, Analbuminemia
Health Risk
RS2476140446
Pathogenic
Health Risk
RS74821926
Pathogenic
Alloalbuminemia, Alloalbuminemia
Health Risk
RS75002628
Pathogenic
Hyperthyroxinemia, familial dysalbuminemic, ALB-related disorder
Health Risk
RS75152012
Pathogenic
Analbuminemia, Analbuminemia
Health Risk
All Variants (22)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS142714816 | Health Risk | Conflicting classifications of pathogenicity | Hyperthyroxinemia, familial dysalbuminemic, Hyperthyroxinemia |
| RS149432908 | Health Risk | Conflicting classifications of pathogenicity | Hyperthyroxinemia, familial dysalbuminemic, Hyperthyroxinemia |
| RS372174571 | Health Risk | Conflicting classifications of pathogenicity | Hyperthyroxinemia, familial dysalbuminemic, Inborn genetic diseases |
| RS57193077 | Health Risk | Conflicting classifications of pathogenicity | Hyperthyroxinemia, familial dysalbuminemic, Hyperthyroxinemia |
| RS75946332 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS775238949 | Health Risk | Conflicting classifications of pathogenicity | Hyperthyroxinemia, familial dysalbuminemic, Hyperthyroxinemia |
| RS768570250 | Health Risk | Likely pathogenic | Analbuminemia, Analbuminemia |
| RS1577939845 | Health Risk | Pathogenic | Analbuminemia, Analbuminemia |
| RS2476140446 | Health Risk | Pathogenic | — |
| RS74821926 | Health Risk | Pathogenic | Alloalbuminemia, Alloalbuminemia |
| RS75002628 | Health Risk | Pathogenic | Hyperthyroxinemia, familial dysalbuminemic, ALB-related disorder |
| RS75152012 | Health Risk | Pathogenic | Analbuminemia, Analbuminemia |
| RS75353611 | Health Risk | Pathogenic | Alloalbuminemia, Alloalbuminemia |
| RS75470261 | Health Risk | Pathogenic | Analbuminemia, Analbuminemia |
| RS76454301 | Health Risk | Pathogenic | Analbuminemia, Analbuminemia |
| RS77238412 | Health Risk | Pathogenic | Analbuminemia, Analbuminemia |
| RS77335374 | Health Risk | Pathogenic | Analbuminemia, Analbuminemia |
| RS77408163 | Health Risk | Pathogenic | Analbuminemia Baghdad, Analbuminemia Baghdad |
| RS77449454 | Health Risk | Pathogenic | Analbuminemia, Analbuminemia |
| RS77892378 | Health Risk | Pathogenic | Hyperthyroxinemia, familial dysalbuminemic, Hyperthyroxinemia |
| RS79228041 | Health Risk | Pathogenic | ALBUMIN B, ALBUMIN B |
| RS80345158 | Health Risk | Pathogenic | — |