APR3, also known as C2orf28 or p18, is a 229 amino acid single-pass membrane protein that contains one EGF-like domain and exists as two alternatively spliced isoforms. Expressed at a low level in hematopoietic cell lines, APR3 is thought to be involved in apoptosis and may also play a role in hematopoietic development and differentiation. The gene encoding APR3 maps to human chromosome 2, which houses over 1,400 genes and comprises nearly 8 % of the human genome. 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, Alstré° syndrome, is caused by mutations in the ALMS1 gene, which maps to chromosome 2.
Subcellular location: Extracellular
Synonyms: Apoptosis related protein 3, Apoptosis related protein APR 3, APR 3, APR3, Chromosome 2 open reading frame 28, HSPC013, p18, PRO240, ARAID_HUMAN.