AIFM1 Antibody
Description
Product Specs
Product Science Overview
Apoptosis-Inducing Factor Mitochondrion-Associated 1 (AIFM1) is a crucial protein involved in the regulation of apoptosis, a form of programmed cell death. This protein is encoded by the AIFM1 gene, which is located on the X chromosome in humans . AIFM1 is also known by several other names, including Programmed Cell Death Protein 8 (PDCD8) and Apoptosis-Inducing Factor (AIF) .
AIFM1 is a flavoprotein that resides in the mitochondrial intermembrane space under normal physiological conditions . Upon induction of apoptosis, AIFM1 translocates to the nucleus, where it plays a pivotal role in chromatin condensation and DNA fragmentation . The protein has a high degree of homology between humans and mice, with the mouse homolog sharing 92% amino acid identity with the human protein .
AIFM1 is essential for the execution of caspase-independent apoptosis. It induces the release of apoptogenic proteins such as cytochrome c and caspase-9 from the mitochondria . This release triggers a cascade of events leading to cell death. AIFM1’s role in apoptosis is critical for maintaining cellular homeostasis and preventing the proliferation of damaged or cancerous cells .
Mutations in the AIFM1 gene are associated with several severe mitochondrial disorders. One such disorder is Combined Oxidative Phosphorylation Deficiency 6 (COXPD6), a mitochondrial encephalomyopathy characterized by severe neurological impairments . Another condition linked to AIFM1 mutations is Cowchock syndrome, also known as X-linked recessive Charcot-Marie-Tooth disease-4 (CMTX-4), which results in neuropathy, axonal and motor-sensory defects, deafness, and cognitive disability .
The study of AIFM1 has significant implications for understanding the mechanisms of apoptosis and developing therapeutic strategies for diseases involving dysregulated cell death. Mouse models have been instrumental in elucidating the function of AIFM1 and its role in mitochondrial diseases . The use of mouse anti-human AIFM1 antibodies has facilitated research into the protein’s expression, localization, and function in various cellular contexts .
