FABP3 Gene: Function, Expression, and Clinical Significance | Biomedical Hub

The FABP3 gene encodes the heart-type fatty acid binding protein (H-FABP), a small cytoplasmic protein abundantly expressed in cardiac and skeletal muscle, as well as in specific brain regions. As a member of the fatty acid binding protein family, FABP3 acts as a lipid chaperone, facilitating the intracellular transport of long-chain fatty acids from the plasma membrane to sites of beta-oxidation (mitochondria) and signaling (nucleus). Beyond its role in lipid metabolism, FABP3 is involved in gene regulation, cell growth, and differentiation. Its release into the bloodstream upon myocardial injury makes it a sensitive biomarker for acute coronary syndrome and other cardiac conditions. Furthermore, altered FABP3 expression is implicated in various neurological and metabolic disorders.

Tissue Expression

Cell Line Expression

Hotspot Mutations

Mutation functional classification

• PPAR signaling pathway

• Fatty acid metabolism

• Cardiac muscle contraction (indirect)

• Transport of fatty acids

The FABP3 protein, also known as H-FABP, is a 15 kDa cytoplasmic protein that binds long-chain fatty acids with high affinity. Its structure consists of a beta-barrel formed by ten antiparallel beta-strands, creating a hydrophobic cavity for ligand binding. FABP3 facilitates the diffusion of fatty acids from the plasma membrane to intracellular organelles, playing a critical role in energy production in tissues with high oxidative capacity, such as the heart. It also interacts with nuclear receptors, potentially modulating gene expression related to lipid metabolism and cell survival. Upon myocardial damage, FABP3 is rapidly released into the circulation, serving as an early and sensitive biomarker for acute myocardial infarction and other cardiac pathologies.