Albumin (ALB) (ALB)

The genomic albumin locus (ALB) is a highly transcriptionally active region located on chromosome 4 (4q13.3) that encodes the most abundant protein in human plasma [1, 3]. In healthy physiology, this locus is responsible for the hepatic synthesis of albumin, which maintains plasma oncotic pressure and serves as a carrier for hormones, fatty acids, and drugs [1]. In the field of genetic medicine, the albumin locus is targeted as a "safe harbor" for the site-specific integration of therapeutic transgenes using genome editing tools like Zinc Finger Nucleases (ZFNs) [2, 4]. By inserting a functional gene (e.g., for Factor IX or lysosomal enzymes) downstream of the powerful endogenous albumin promoter, the liver can be converted into a "bioreactor" to produce and secrete the missing protein into the bloodstream [2, 5]. This approach is currently being investigated for the treatment of Hemophilia B and various Lysosomal Storage Diseases [2, 5]. However, therapeutic application faces challenges such as potential off-target editing, the risk of insertional mutagenesis, and the requirement for high-efficiency delivery via viral vectors like AAV [4]. Sources: [1] UniProt P02768; [2] Sangamo Therapeutics Pipeline; [3] PubMed PMID: 25644134; [4] PubMed PMID: 30716056; [5] ClinicalTrials.gov NCT02702115.

Other names

ALB geneSerum albumin locus4q13.3 locusHSA locus

Targeted integration of a therapeutic transgene into the albumin locus via genome editing (e.g., ZFNs) to leverage the endogenous promoter for high-level protein expression.