Gene:
apolipoprotein A-II
Description:
Apolipoprotein (Apo-) A-II is the second most abundant protein of the high density lipoprotein particles. The apo-A-II gene consists of 4 exons and 3 introns. The four exons encode the 5' untranslated region, pre-peptide, a short N-terminal domain and a C-terminal domain composed of a variable number of lipid-binding amphipathic helices. Familial apo-A-II deficiency may result from a splice-junction alteration which blocks splicing of intron 3 from the primary transcript and result the formation of a non-functional mRNA.