AIFM1 is expressed as a 613- residue precursor protein that containing a mitochondrial targeting sequence (MTS) at its N-terminal and two nuclear leading sequences (NLS). Once imported into the mitochondria, the first 54 residues of the N-terminal are cleaved to produce the mature protein, which inserts into the inner mitochondrial membrane.

2024年12月24日 · AIFM1 (Apoptosis Inducing Factor Mitochondria Associated 1) is a Protein Coding gene. Diseases associated with AIFM1 include Combined Oxidative Phosphorylation Deficiency 6 and Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy .

Apoptosis-inducing factor (AIF) is a mitochondrial intermembrane space flavoprotein with diverse functions in cellular physiology. In this regard, a large number of studies have elucidated AIF's participation to chromatin condensation during cell death in development, cancer, cardiovascular and brain disorders.

该基因的突变导致联合氧化磷酸化缺陷 6 (COXPD6) ，一种严重的线粒体脑肌病，以及 Cowchock 综合征，也称为 X 连锁隐性 Charcot-Marie-Tooth 病 4 (CMTX-4) ，一种导致神经病变、轴突和运动感觉缺陷伴有耳聋和认知障碍。 可变剪接导致多个转录本变体。 已在 10 号染色体上鉴定出一个相关的假基因。 [RefSeq 提供，2015 年 8 月]

AIFM1 variants associated with auditory neuropathy spectrum disorder cause apoptosis due to impaired apoptosis-inducing factor dimerization. AIFM1 is a component of the mitochondrial disulfide relay that drives complex I assembly through efficient import of NDUFS5.

Apoptosis-inducing factor (AIF) is a mitochondrial intermembrane space flavoprotein with diverse functions in cellular physiology. In this regard, a large number of studies have elucidated AIF's participation to chromatin condensation during cell death in development, cancer, cardiovascular and brain disorders.

2023年4月25日 · Here, we report that AIFM1 facilitates STING activation-induced cell apoptosis in T lymphocytes. Mechanistically, AIFM1 is upregulated after STING activation in T cells but not in HEK293T-STING and THP-1 cells, rendering T cells more sensitive to apoptosis.

2025年2月8日 · AIFM1, negatively regulated by miR-145-5p, aggravates hypoxia-induced cardiomyocyte injury. AIF Overexpression Aggravates Oxidative Stress in Neonatal Male Mice After Hypoxia-Ischemia Injury. The mitochondrial protease LONP1 maintains oocyte development and survival by suppressing nuclear translocation of AIFM1 in mammals.

2022年7月20日 · AIFM1 is a part of the mitochondrial disulfide relay mediating protein import into the mitochondrial intermembrane space. AIFM1 forms a stable 1‐to‐2 complex with MIA40/CHCHD4. The complex of AIFM and MIA40/CHCHD4 is critical for mitochondrial import of specific MIA40/CHCHD4substrates.

Results: AIFM1 expression was markedly highly elevated, while miR-145-5p expression was significantly down-regulated in the myocardial infarction animal model and H9c2 cells under hypoxia. Augmentation of AIFM1 led to a dramatic decrease of cell viability, accompanied by an increase of the secretion of the inflammatory cytokines IL-1β, TNF-α ...