FAM49A is a 323 amino acid protein that is encoded by a gene which maps to human chromosome 2. The second largest human chromosome, chromosome 2 encodes over 1,400 genes and comprises nearly 8% of the human genome, housing a number of disease-associated genes. Harlequin icthyosis, a rare and morbid skin deformity, is associated with mutations in the ABCA12 gene, while the lipid metabolic disorder sitosterolemia is associated with defects in the ABCG5 and ABCG8 genes. Additionally, an extremely rare recessive genetic disorder, Alstr鰉 syndrome, is caused by mutations in the ALMS1 gene, which maps to chromosome 2.