AFM Gene - Afamin: Function, Expression, and Clinical Significance

The AFM gene encodes afamin, a member of the albumin gene family. Afamin is a glycoprotein primarily synthesized in the liver and secreted into the bloodstream. It functions as a vitamin E-binding protein, facilitating the transport of alpha-tocopherol and protecting cells from oxidative stress. Afamin is also implicated in fertility, neuroprotection, and metabolic regulation. Its expression is modulated in various physiological and pathological states, including ovarian hyperstimulation syndrome, preeclampsia, and certain cancers.

Tissue Expression

Cell Line Expression

Hotspot Mutations

Mutation functional classification

• Vitamin E transport and metabolism

• Oxidative stress response

• Albumin family protein interactions

Afamin is a 87 kDa glycoprotein composed of 578 amino acids. It contains three albumin-like domains and binds vitamin E (alpha-tocopherol) with high affinity. The protein is secreted into plasma and other body fluids, including follicular fluid, cerebrospinal fluid, and amniotic fluid. Afamin protects cells from oxidative stress by delivering vitamin E to tissues. It also interacts with fatty acids and ascorbic acid. Post-translational modifications include N-glycosylation at Asn-45 and Asn-307, which are critical for stability and function.