Mouse Anti-AIFM1 Recombinant Antibody (V2-630613) (CBMAB-BR012LY)

Name: Mouse Anti-AIFM1 Recombinant Antibody (V2-630613)
SKU: CBMAB-BR012LY
Rating: 5 (1 reviews)

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Published Data

Mouse Anti-AIFM1 Recombinant Antibody (2I5) in WB

Western blot analyses validated HOXA5 overexpression, which reduced the mitosis-related gene expression in ECCA cells. HOXA5 overexpression did not alter the EMT-related gene expression, but increased AIFM1, and decreased BCL-2 expression in ECCA cells. ...View More

Xiong, F., Liu, W., Wang, X., Wu, G., Wang, Q., Guo, T., ... & Chen, Y. (2022). HOXA5 inhibits the proliferation of extrahepatic cholangiocarcinoma cells by enhancing MXD1 expression and activating the p53 pathway. Cell Death & Disease, 13(9), 829.

Mouse Anti-AIFM1 Recombinant Antibody (2I5) in WB and IF

(A) Relative quantification of mRNA levels for AIFM1 in controls and patient's fibroblasts using different primers. The results of mRNA are the average of the values assessed after three reaction tests. (B) Western blot analysis in controls and patient's fibroblasts using AIF antibody. GAPDH was used as loading control. The patient's sample shows a clear reduction in the AIF amount compared with the control lines. (C) Western blot analysis in controls and patient's muscles using AIF antibody. GAPDH was used as loading control. (D) Electron microscopy of quadriceps muscle demonstrating large, irregularly shaped mitochondria, including one with concentric cisternae. (E) TOMM20 staining of the patient's and control fibroblast. DAPI was used to mark the nucleus. ...View More

Peng, Q., Ma, K., Wang, L., Zhu, Y., Zhang, Y., Rao, C., ... & Lu, X. (2022). Case report: a novel intronic mutation in AIFM1 associated with fatal encephalomyopathy and mitochondrial disease in infant. Frontiers in Pediatrics, 10, 889089.

Datasheet

Summary

Host Animal

Mouse

Specificity

Human, Mouse, Rat

Clone

V2-630613

Antibody Isotype

IgG1

Application

FC, IF, IHC-P, WB

Basic Information

Immunogen

A synthetic peptide corresponding to a sequence at the C-terminus of human AIF

Host Species

Mouse

Specificity

Human, Mouse, Rat

Antibody Isotype

IgG1

Clonality

Monoclonal

Application Notes

The COA includes recommended starting dilutions, optimal dilutions should be determined by the end user.

Application	Note
WB	0.1-0.5 μg/ml
IHC-P	0.5-1 μg/ml
IF(ICC)	5 μg/ml
FC	1-3 µg/10^6 cells

Formulations & Storage [For reference only, actual COA shall prevail!]

Format

Lyophilized

Buffer

Trehalose

Preservative

0.05 mg sodium azide

Concentration

Batch dependent

Storage

Store at +4°C short term (1-2 weeks). Aliquot and store at -20°C long term. Avoid repeated freezethaw cycles.

Target

Full Name

Apoptosis Inducing Factor Mitochondria Associated 1

Introduction

This gene encodes a flavoprotein essential for nuclear disassembly in apoptotic cells, and it is found in the mitochondrial intermembrane space in healthy cells. Induction of apoptosis results in the translocation of this protein to the nucleus where it affects chromosome condensation and fragmentation. In addition, this gene product induces mitochondria to release the apoptogenic proteins cytochrome c and caspase-9. Mutations in this gene cause combined oxidative phosphorylation deficiency 6 (COXPD6), a severe mitochondrial encephalomyopathy, as well as Cowchock syndrome, also known as X-linked recessive Charcot-Marie-Tooth disease-4 (CMTX-4), a disorder resulting in neuropathy, and axonal and motor-sensory defects with deafness and cognitive disability. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 10. [provided by RefSeq, Aug 2015]

Entrez Gene ID

Human	9131
Mouse	26926
Rat	83533

UniProt ID

Human	O95831
Mouse	Q9Z0X1
Rat	Q9JM53

Alternative Names

Function

Functions both as NADH oxidoreductase and as regulator of apoptosis (PubMed:20362274, PubMed:23217327, PubMed:17094969). In response to apoptotic stimuli, it is released from the mitochondrion intermembrane space into the cytosol and to the nucleus, where it functions as a proapoptotic factor in a caspase-independent pathway. The soluble form (AIFsol) found in the nucleus induces 'parthanatos' i.e. caspase-independent fragmentation of chromosomal DNA (By similarity). Binds to DNA in a sequence-independent manner (PubMed:27178839). Interacts with EIF3G, and thereby inhibits the EIF3 machinery and protein synthesis, and activates caspase-7 to amplify apoptosis (PubMed:17094969). Plays a critical role in caspase-independent, pyknotic cell death in hydrogen peroxide-exposed cells (PubMed:19418225). In contrast, participates in normal mitochondrial metabolism. Plays an important role in the regulation of respiratory chain biogenesis by interacting with CHCHD4 and controlling CHCHD4 mitochondrial import (PubMed:26004228).
Isoform 4: Has NADH oxidoreductase activity. Does not induce nuclear apoptosis.
Isoform 5: Pro-apoptotic isoform.

Biological Process

Activation of cysteine-type endopeptidase activity involved in apoptotic process Source: UniProtKB
Apoptotic process Source: UniProtKB
Chromosome condensation Source: UniProtKB
Intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress Source: UniProtKB
Mitochondrial respiratory chain complex assembly Source: UniProtKB
Mitochondrial respiratory chain complex I assembly Source: UniProtKB
Neuron differentiation Source: UniProtKB
Positive regulation of apoptotic process Source: UniProtKB
Protein import into mitochondrial intermembrane space Source: UniProtKB

Cellular Location

Nucleus; Cytoplasm; Mitochondrion intermembrane space; Mitochondrion inner membrane; Perinuclear region. Proteolytic cleavage during or just after translocation into the mitochondrial intermembrane space (IMS) results in the formation of an inner-membrane-anchored mature form (AIFmit). During apoptosis, further proteolytic processing leads to a mature form, which is confined to the mitochondrial IMS in a soluble form (AIFsol). AIFsol is released to the cytoplasm in response to specific death signals, and translocated to the nucleus, where it induces nuclear apoptosis (PubMed:15775970). Colocalizes with EIF3G in the nucleus and perinuclear region (PubMed:17094969).
Isoform 3: Mitochondrion intermembrane space; Mitochondrion inner membrane. Has a stronger membrane anchorage than isoform 1.
Isoform 4: Cytosol; Mitochondrion. In pro-apoptotic conditions, is released from mitochondria to cytosol in a calpain/cathepsin-dependent manner.
Isoform 5: Cytoplasm

Involvement in disease

Combined oxidative phosphorylation deficiency 6 (COXPD6): A mitochondrial disease resulting in a neurodegenerative disorder characterized by psychomotor delay, hypotonia, areflexia, muscle weakness and wasting. Some patients manifest prenatal ventriculomegaly and severe postnatal encephalomyopathy.
Charcot-Marie-Tooth disease, X-linked recessive, 4, with or without cerebellar ataxia (CMTX4): A neuromuscular disorder characterized by progressive sensorimotor axonal neuropathy, distal sensory impairment, difficulty walking due to peripheral neuropathy and/or cerebellar ataxia, and deafness due to auditory neuropathy. Additional features include cognitive impairment, cerebellar atrophy, dysarthria, abnormal extraocular movements, tremor, dysmetria and spasticity. The age at onset ranges from infancy to young adulthood.
Deafness, X-linked, 5, with peripheral neuropathy (DFNX5): A form of hearing loss characterized by absent or severely abnormal auditory brainstem response, abnormal middle ear reflexes, abnormal speech discrimination, loss of outer hair cell function, and cochlear nerve hypoplasia. DFNX5 patients manifest auditory neuropathy with childhood onset, associated with distal sensory impairment affecting the peripheral nervous system.
Spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy (SEMDHL): An X-linked recessive developmental disorder characterized by slowly progressive skeletal and neurologic abnormalities, including short stature, large and deformed joints, significant motor impairment, visual defects, and sometimes cognitive deficits. Affected individuals typically have normal early development in the first year or so of life, followed by development regression and the development of symptoms. Brain imaging shows white matter abnormalities consistent with hypomyelinating leukodystrophy.

PTM

Under normal conditions, a 54-residue N-terminal segment is first proteolytically removed during or just after translocation into the mitochondrial intermembrane space (IMS) by the mitochondrial processing peptidase (MPP) to form the inner-membrane-anchored mature form (AIFmit). During apoptosis, it is further proteolytically processed at amino-acid position 101 leading to the generation of the mature form, which is confined to the mitochondrial IMS in a soluble form (AIFsol). AIFsol is released to the cytoplasm in response to specific death signals, and translocated to the nucleus, where it induces nuclear apoptosis in a caspase-independent manner.
Ubiquitination by XIAP/BIRC4 does not lead to proteasomal degradation. Ubiquitination at Lys-255 by XIAP/BIRC4 blocks its ability to bind DNA and induce chromatin degradation, thereby inhibiting its ability to induce cell death.

More Infomation

References

Hevler, J. F., Chiozzi, R. Z., Cabrera-Orefice, A., Brandt, U., Arnold, S., & Heck, A. J. (2021). Molecular characterization of a complex of Apoptosis Inducing Factor 1 (AIFM1) with cytochrome c oxidase of the mitochondrial respiratory chain. bioRxiv.

Li, Z., Cheng, J., & Liu, J. (2020). Baicalin Protects Human OA Chondrocytes Against IL-1β-Induced Apoptosis and ECM Degradation by Activating Autophagy via MiR-766-3p/AIFM1 Axis. Drug Design, Development and Therapy, 14, 2645.

Bogdanova-Mihaylova, P., Alexander, M. D., Murphy, R. P., Chen, H., Walsh, R. A., & Murphy, S. M. (2019). 138 Clinical spectrum of AIFM1-associated phenotype in an irish family. Journal of Neurology, Neurosurgery and Psychiatry, 90(12), e39.

Wischhof, L., Gioran, A., Sonntag-Bensch, D., Piazzesi, A., Stork, M., Nicotera, P., & Bano, D. (2018). A disease-associated Aifm1 variant induces severe myopathy in knockin mice. Molecular metabolism, 13, 10-23.

Liu, D., Liu, M., Wang, W., Pang, L., Wang, Z., Yuan, C., & Liu, K. (2018). Overexpression of apoptosis-inducing factor mitochondrion-associated 1 (AIFM1) induces apoptosis by promoting the transcription of caspase3 and DRAM in hepatoma cells. Biochemical and biophysical research communications, 498(3), 453-457.

Morton, S. U., Prabhu, S. P., Lidov, H. G., Shi, J., Anselm, I., Brownstein, C. A., ... & Agrawal, P. B. (2017). AIFM1 mutation presenting with fatal encephalomyopathy and mitochondrial disease in an infant. Molecular Case Studies, 3(2), a001560.

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Protocols

Please try the standard protocols which include: protocols, troubleshooting and guide.

Enzyme-linked Immunosorbent Assay (ELISA)
Flow Cytometry
Immunofluorescence (IF)
Immunohistochemistry (IHC)
Immunoprecipitation (IP)
Western Blot (WB)
Enzyme-Linked Immunospot (ELISpot)
Proteogenomics
Other Protocols

Associated Products

Antibody Pairs

AIFM1 Matched Antibody Pair (041)

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Isotype control

For research use only. Not intended for any clinical use.

Custom Antibody Labeling

We also offer labeled antibodies developed using our catalog antibody products and nonfluorescent conjugates (HRP, AP, Biotin, etc.) or fluorescent conjugates (Alexa Fluor, FITC, TRITC, Rhodamine, Texas Red, R-PE, APC, Qdot Probes, Pacific Dyes, etc.).

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