APOA1 Gene

The APOA1 gene (APOA1 stands for: Apolipoprotein A1) is a protein coding gene located on chromosome 11q23.3. Alternative splicing results in multiple transcript variants, at least one of which encodes a preprotein.

This gene encodes apolipoprotein A-I, the major protein component of high density lipoprotein (HDL) in plasma. The encoded preprotein is proteolytically processed to form the mature protein that promotes cholesterol efflux from tissues for excretion into the liver. The protein continues to be a cofactor for lecithin-cholesterol acyl transferase (LCAT), an enzyme responsible for the formation of most cholesterol esters in plasma. Activates sperm motility as part of the SPAP complex. The APOA1 gene is closely linked to two other apolipoprotein genes on chromosome 11.

Defects in this gene are associated with HDL deficiency, including Tangier disease, and with systemic non-neuropathic amyloidosis (apolipoprotein A1 amyloidosis).

1. Horike K et al. (2018) Two novel APOA1 gene mutations in a Japanese renal transplant recipient with recurrent apolipoprotein A-I related amyloidosis. Nephrology (Carlton) 23 Suppl 2:17-21.
2. Joy T et al (2003) APOA1 related amyloidosis: a case report and literature review. Clin Biochem 36:641-645.