Apolipoprotein L1

Apolipoprotein L1 is a protein that in humans is encoded by the APOL1 gene. Two transcript variants encoding two different isoforms have been found for this gene.

Species distribution

This gene is only found in humans, African green monkeys, and gorillas.

Structure

The gene that encodes the APOL1 protein is 14,522 base pairs long and found on the human chromosome 22, on the long arm at position 13.1 from base pair 36,253,070 to base pair 36,267,530.

The protein is a 398 amino acid protein. It consists of 5 functional domains:

Mutations

Two coding variants, G1 and G2, have been recently identified with relevance to human phenotypes. The G1 is a pair of two non-synonymous single nucleotide polymorphisms (SNPs) in almost complete linkage disequilibrium. G2 is an in-frame deletion of the two amino acid residues, N388 and Y389.