ALB albumin
Gene ID: 213, updated on 4-Jan-2025Gene type: protein coding
Also known as: HSA; FDAHT; PRO0883; PRO0903; PRO1341
- See all available tests in GTR for this gene
- Go to complete Gene record for ALB
- Go to Variation Viewer for ALB variants
Summary
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Analbuminemia | See labs |
| Genome-wide association study identifies multiple loci influencing human serum metabolite levels. GeneReviews: Not available | |
| Hyperthyroxinemia, familial dysalbuminemic | See labs |
| Identification of 23 new prostate cancer susceptibility loci using the iCOGS custom genotyping array. GeneReviews: Not available |
Genomic context
- Location:
- 4q13.3
- Sequence:
- Chromosome: 4; NC_000004.12 (73404287..73421482)
- Total number of exons:
- 15
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for ALB variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ALB database
- Albumin mutation database
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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