ALB Gene (Albumin): Function, Mutations & Associated Diseases | Biomedical Resource

The ALB gene encodes albumin, the most abundant protein in human blood plasma. Albumin is a soluble, monomeric protein synthesized primarily by the liver. It plays a critical role in maintaining colloidal osmotic pressure, transporting various molecules (including hormones, fatty acids, bilirubin, and drugs), and serving as a major antioxidant and pH buffer. Mutations in this gene can lead to conditions such as analbuminemia and familial dysalbuminemic hyperthyroxinemia.

Tissue Expression

Cell Line Expression

Hotspot Mutations

Mutation functional classification

• Complement and coagulation cascades

• Platelet activation

• signaling and aggregation

• Hemostasis

• Plasma lipoprotein clearance

• Transport of small molecules

Albumin is a 66.5 kDa protein consisting of 585 amino acids. It is synthesized as preproalbumin, which is cleaved to proalbumin and then to mature albumin. The protein has a heart-shaped structure with three homologous domains, each containing two subdomains. It contains 17 disulfide bonds and one free cysteine residue (Cys34), which is important for its antioxidant properties. Albumin binds and transports a wide variety of endogenous and exogenous ligands, including fatty acids, bilirubin, metal ions, hormones, and drugs. Its primary function is to maintain plasma oncotic pressure, which is crucial for fluid distribution between the intravascular and extravascular compartments.