Recombinant Human Inverted formin-2 (INF2), partial

1. INF2-mediated actin polymerization on the endoplasmic reticulum stimulates mitochondrial division by two independent mechanisms: (1) mitochondrial calcium uptake, leading to inner mitochondrial membrane constriction; and (2) Drp1 oligomerization, leading to outer mitochondrial membrane constriction. PMID: 29142021
2. Studies indicate that INF2, a formin, that is mutated in hereditary renal and neurodegenerative disorders. PMID: 29947928
3. Disease causing mutations in inverted formin 2 regulate its binding to G-actin, F-actin capping protein (CapZ alpha-1) and profilin 2. PMID: 26764407
4. hese findings reveal novel molecular events underlying the regulation of INF2 function and localization, and provided insights in understanding the relationship between SPOP mutations and dysregulation of mitochondrial dynamics in prostate cancer. PMID: 28448495
5. All individuals with INF2 mutations presenting with a thrombotic microangiopathy also had atypical hemolytic uremic syndrome risk haplotypes, potentially accounting for the genetic pleiotropy PMID: 27974406
6. Propose that examination of INF2 expression may help to differentiate minimal change disease from focal segmental glomerulosclerosis and evaluate the clinical severity of steroid resistance nephrotic syndrome in children. PMID: 26383224
7. FHOD1 and INF2 are novel regulators of inter- and intra-structural contractility of podosomes. PMID: 26621033
8. Report novel mutations in the inverted formin 2 gene of Chinese families contributing to focal segmental glomerulosclerosis. PMID: 26039629
9. Assembly and turnover of short actin filaments by the formin INF2 and profilin. PMID: 26124273
10. INF2 mutations are associated with focal segmental glomerulosclerosis. PMID: 25165188
11. this study identifed three novel mutations of INF likely efect hereditary neuropathy with glomerulopathy. PMID: 24174593
12. actin monomer binding to the DAD of INF2 competes with the DID/DAD interaction, thereby activating actin polymerization PMID: 23921379
13. INF2 mutation was detected both father and his son PMID: 23847988
14. This study showed that INF2 mutations in Charcot-Marie-Tooth disease complicated with focal segmental glomerulosclerosis. PMID: 23521651
15. In podocytes, INF2 appears to be an important modulator of actin-dependent behaviors that are under the control of Rho/mDia signaling. PMID: 23620398
16. INF2 mutations were found in 2 of 281 individuals with sporadicfocal and segmental glomerulosclerosis PMID: 23014460
17. Our study confirms the link between INF2 mutations and Charcot-Marie-Tooth-associated glomerulopathy and widens the spectrum of pathogenic mutations. PMID: 22961558
18. A novel mutation, outside of the candidate region for diagnosis, in the inverted formin 2 gene can cause focal segmental glomerulosclerosis. PMID: 22971997
19. Formation of stabilized, detyrosinated microtubules required the formin INF2. PMID: 22986496
20. study found actin polymerization through ER-localized INF2 was required for efficient mitochondrial fission; INF2-induced actin filaments may drive initial mitochondrial constriction, which allows Drp1-driven secondary constriction PMID: 23349293
21. Mutations to the formin homology 2 domain of INF2 protein have unexpected effects on actin polymerization and severing. PMID: 22879592
22. Splice variant-specific cellular function of the formin INF2 in maintenance of Golgi architecture. PMID: 21998196
23. INF2 mutations were responsible for 16% of all cases of autosomal dominant focal and segmental glomerulosclerosis, with these mutations clustered in exon 4. PMID: 21866090
24. Actin monomers inhibit microtubule binding/bundling by INF2 PMID: 21998204
25. INF2 mutations appear to cause many cases of FSGS-associated Charcot-Marie-Tooth neuropathy, showing that INF2 is involved in a disease affecting both the kidney glomerulus and the peripheral nervous system. PMID: 22187985
26. The effects of disease-causing INF2 mutations suggest an important role for this protein and its interaction with other formins in modulating glomerular podocyte phenotype and function. PMID: 21278336
27. In conclusion, we described an additional familial case of the autosomal dominant form of focalsegmental glomerulosclerosis associated with INF2 mutations. PMID: 20803156
28. Six of the seven distinct altered residues localized to an INF2 region that corresponded to a subdomain of the mDia1 diaphanous inhibitory domain reported to co-immunoprecipitate with IQ motif-containing GTPase-activating protein 1 PMID: 21258034
29. Study identified nine independent nonconservative missense mutations in INF2, which encodes a member of the formin family of actin-regulating proteins. PMID: 20023659

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HGNC: 23791

OMIM: 610982

KEGG: hsa:64423

STRING: 9606.ENSP00000376410

UniGene: Hs.24956