Human FAD-linked sulfhydryl oxidase ALR(GFER) ELISA kit

FAD-dependent sulfhydryl oxidase that regenerates the redox-active disulfide bonds in CHCHD4/MIA40, a chaperone essential for disulfide bond formation and protein folding in the mitochondrial intermembrane space. The reduced form of CHCHD4/MIA40 forms a transient intermolecular disulfide bridge with GFER/ERV1, resulting in regeneration of the essential disulfide bonds in CHCHD4/MIA40, while GFER/ERV1 becomes re-oxidized by donating electrons to cytochrome c or molecular oxygen.; May act as an autocrine hepatotrophic growth factor promoting liver regeneration.

1. Data (including data from studies in knockout mice) suggest that KIBRA plays important role in regulating HPO activity, YAP signaling, and actin cytoskeletal dynamics in podocytes; expression of KIBRA and YAP plus phosphorylation of YAP are up-regulated in glomeruli of patients with focal segmental glomerulosclerosis. (KIBRA = kidney/brain protein-KIBRA; HPO = hepatopoietin protein; YAP = Yes associated protein-1) PMID: 28982981
2. Loss of DLG5 expression promoted breast cancer progression by inactivating the Hippo signaling pathway and increasing nuclear YAP. PMID: 28169360
3. WWC2 functions as a tumor suppressor by negatively regulating the Hippo signaling pathway and may serve as a prognostic marker in hepatocellular carcinoma. PMID: 28815883
4. the results of this study demonstrated that targeted inhibition of the ALR expression in Jurkat cells triggered cell growth inhibition and sensitized cells to VCR via promoting apoptosis and regulating the cell cycle. PMID: 29048676
5. IKBKE plays a pivotal role in regulating cell proliferation, invasion and epithelial-mesenchymal transition of malignant glioma cells in vitro and in vivo by impacting on the Hippo pathway. PMID: 28548934
6. we found 2 additional patients carrying compound heterozygous variants in GFER. Reverse phenotyping confirmed the phenotypical similarities between the 4 patients. Together with the first literature reports, the review of these 8 cases from 4 unrelated families enables us to better describe this apparently homogeneous disorder, with the clinical and biological stigmata of mitochondrial disease PMID: 28155230
7. ese findings collectively indicate that ALR negatively regulates the autophagy process through an association with the AMPK/mTOR signaling pathway. Autophagy inhibit apoptosis and play a protective role under conditions of oxidative stress. PMID: 28466106
8. HPO interaction with MOB1 is not essential for development and tissue growth control. PMID: 28947795
9. Overexpression of augmenter of liver regeneration (ALR) in liver cancer was studied and found to improve sensitivity to antitumor drugs by increasing the retention of intracellular drugs, at least partly through the modulation of the ABCB1 and ABCG2 signaling pathway. PMID: 28825695
10. role in regulating the mitochondrial fission machinery PMID: 28646508
11. It evidence demonstrating Hippo-independent regulation of TEADs and the potential impacts these studies may have on new cancer therapeutics. PMID: 28964625
12. ALR protects steatotic hepatocytes from ischemia reperfusion injury by attenuating oxidative stress and mitochondrial dysfunction. PMID: 28704337
13. Our results show that MARK4 acts as a negative regulator of the Hippo kinase cassette to promote YAP/TAZ activity and that loss of MARK4 restrains the tumorigenic properties of breast cancer cells. PMID: 28183853
14. ALR, dependent on its localization, changes the acute-phase response (APR) at least in part, by modifying STAT3 activation; dual signaling of ALR suggests that ALR is pivotal for the regulation of APR, a crucial event in liver injury and regeneration PMID: 28506765
15. the mechanistic regulation and linkage of the ROR1-HER3 and Hippo-YAP pathway in a cancer-specific context PMID: 28114269
16. S100A7 induction by the Hippo-YAP pathway in cervical and glossopharyngeal squamous cell carcinoma has been described. PMID: 27907036
17. ALR protects cells from apoptosis partly through increased autophagy in HepG2 cells. PMID: 25954098
18. Knockdown of GFER exerts anti-inflammatory actions via suppression of the mitogen-activated protein kinase signaling pathway PMID: 25929436
19. ALR plays a protective role against hydrogen peroxide-induced oxidative stress in renal proximal tubule cells. PMID: 25633409
20. Data show that the over-expression of 23 kDa augmenter of liver regeneration (ALR) in hepatic cell line LO2 cells promoted the cell proliferation and enhanced cell resistance to hydrogen peroxide. PMID: 26271971
21. Upregulation of miR-130b enhances stem cell-like phenotype in glioblastoma by inactivating the Hippo signaling pathway. PMID: 26241672
22. This review summarizes the current findings of the regulation of Hippo signaling in liver regeneration and tumorigenesis, focusing on how the loss of tumor suppressor components of the Hippo pathway results in liver cancers. [review] PMID: 25476204
23. Here we provide an overview of its roles in regulating stem cells in epithelial tissues and its potential implications in related cancers. [review] PMID: 25476205
24. The purpose of this review is to summarize the recent findings and discuss how Hippo pathway responds to cellular stress and regulates early development events, tissue homeostasis as well as tumorigenesis. [review] PMID: 25476206
25. this review, we briefly describe the components of the Hippo pathway and focus on the recent progress with respect to the regulation of the Hippo pathway by GPCRs and G proteins in cancer cells. [review] PMID: 25491506
26. Control of growth and beyond: a special issue on Hippo signaling PMID: 25467756
27. This review will discuss and summarize the roles of several core components of the Hippo pathway in mammary gland development and breast cancer. [review] PMID: 25467757
28. In this review, we discuss the roles of non-canonical Hippo/Mst signaling pathways in lymphocyte development and functions. [review] PMID: 25487919
29. ALR is involved in the progression of renal fibrosis and administration of rhALR protects the kidney against renal fibrosis by inhibition of TGF-beta/Smad activity. PMID: 24844766
30. Enhanced ALR gene expression was negatively correlated with advanced histopathological grade and stage in both colon cancer cell lines and human tissue samples. PMID: 25778301
31. A model for the functional defect in Erv1 R182H, which could potentially be extended to human ALR R194H and provides insights into the molecular basis of autosomal recessive myopathy. PMID: 25269795
32. ALR, Bcl-2 protein, clusterin and reactive oxygen species expression in muscle tissue biopsies from mitochondrial myopathy-affected patients, was determined. PMID: 23916837
33. protects Jurkat T leukemia cells from vincristine-induced cell death PMID: 23810409
34. the protective effect of hepatic stimulator substance against endoplasmic reticulum stress may be associated with the removal of reactive oxygen species to restore the activity of the sarco-endoplasmic reticulum Ca(2+)-ATPase. PMID: 24284796
35. These results collectively suggest that the Hippo pathway negatively regulates the actin-binding activity of Amot family members through direct phosphorylation. PMID: 24225952
36. Import and oxidative folding of proteins are kinetically and functionally coupled and depend on the expression of Mia40, ALR, and the intracellular glutathione pool. PMID: 23676665
37. this work studies the catalytic mechanism of the short, cytokine form of augmenter of liver regeneration using model thiol substrates of the enzyme PMID: 24147449
38. Nrf2 activates ALR via antioxidant response element and links oxidative stress to liver regeneration. PMID: 23887691
39. Small molecule MitoBloCK-6 inhibits Erv1/ALR and thus mitochondrial protein import in human embryonic stem cells. PMID: 23597483
40. overexpression of hALR results in influencing the sperm morphology and quantity and the eventual reduction in male fertility. PMID: 22863717
41. refined 2.4 A resolution of ALR structure is in good agreement with both the X-ray data (R(cryst) of 0.165, R(free) of 0.211) PMID: 22948913
42. The unstructured domain performs a dual function in two cellular compartments: it acts (i) as a mitochondrial targeting signal in the cytosol and (ii) as a crucial recognition site in the disulfide relay system of intermembrane space. PMID: 23207295
43. ALR level in serum may indicate hepatocyte proliferation or liver regeneration. High ALR level in serum in early stage of acute-on-chrinic liver failure may mean a good prognosis. PMID: 22246190
44. The role of ALR is activated caspase-3, ROS, apoptotic cell number and mitochondrial degeneration. PMID: 22476097
45. The study shows the mechanism of the electron flux within ALR, characterizing at the atomic level the ALR intermediates that allow electrons to rapidly flow to cytochrome c. PMID: 22224850
46. The role for Gfer is the restriction of unwarranted proliferation in HSCs through the inhibition of Jab1 and subsequent stabilization and nuclear retention of p27kip1. PMID: 21636978
47. Data indicate that cytosolic ALR reduces hepatoma cell migration, augments epithelial growth and, therefore, may act as an antimetastatic and EMT reversing protein. PMID: 21152698
48. Molecular recognition and substrate mimicry drive the electron-transfer process between MIA40 and ALR. PMID: 21383138
49. Mutation in the GFER gene causes an infantile mitochondrial disorder. GFER mutation in patient's muscle causes: a reduction in complex I, II, and IV activity; abnormal morphology of the mitochondria; and mtDNA multiple deletions. PMID: 19409522
50. [review] Chronic lack of action by hepatic insulin-sensitizing substance (HISS) results in a progressive and predictable series of homeostatic dysfunctions typical of type 2 diabetes. PMID: 20393596

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Myopathy, mitochondrial progressive, with congenital cataract, hearing loss and developmental delay (MPMCHD)

[Isoform 1]: Mitochondrion intermembrane space. Mitochondrion.; [Isoform 2]: Cytoplasm. Secreted.

Ubiquitously expressed. Highest expression in the testis and liver and low expression in the muscle.

HGNC: 4236

OMIM: 600924

KEGG: hsa:2671

STRING: 9606.ENSP00000248114

UniGene: Hs.27184