AIFL Background Information
AIFL (apoptosis-inducing factor-like), also known as AIFM3 (apoptosis-inducing factor, mitochondrion-associated, 3), is a 605 amino acid protein that localizes to the mitochondrion and contains one rieske domain. Expressed ubiquitously in tissues including liver, thymus, ovary, bone marrow and cerebral cortex, AIFL functions to induce apoptosis, specifically through a caspase-dependent pathway, and may also play a role in the modulation of mitochondrial membrane potential. Multiple isoforms of AIFL exist due to alternative splicing events. The gene encoding AIFL maps to human chromosome 22, which houses over 500 genes and is the second smallest human chromosome. Mutations in several of the genes that map to chromosome 22 are involved in the development of Phelan-McDermid syndrome, Neurofibromatosis type 2, autism and schizophrenia.
