NCIt synonyms : Apolipoprotein A-I Gene; Apolipoprotein A1 wt Allele; Apolipoprotein of High Denisity Lipoprotein Gene;
NCIt definition : Human APOA1 wild-type allele is located within 11q23-q24 and is approximately 2 kb
in length. This allele, which encodes apolipoprotein A-I protein, plays a role in
cholesterol metabolism and transport. Mutation of the gene is associated with several
types of amyloidosis, APOA1 deficiency, hypoalphalipoproteinemia, autosomal recessive
corneal clouding, and high density lipoprotein deficiency types 1 (recessive) and
2 (autosomal dominant). Fusion of this gene with the neighboring APOC3 gene is associated
with combined apoA-I and apoC-III deficiency.;