Inf2 omim
Web21 feb. 2013 · INF2 was also expressed predominantly in podocytes in the kidney, as well as in some tubules, but not in vessels. INF2 colocalized with the myelin and lymphocyte … WebNM_022489.4(INF2):c.2847G>A (p.Ala949=) AND multiple conditions Clinical significance: Likely benign (Last evaluated: Dec 4, 2024) Review status: 1 star out of maximum of 4 stars
Inf2 omim
Did you know?
WebBy reviewing the literature, INF2 and COL4A5 mutations are not associated in terms of proteomics and genomics and could cause glomerular disease clinical manifestations, … Web1 mei 2009 · In addition to its ability to accelerate filament assembly, which is common to formins, INF2 is a formin protein with the unique biochemical ability to accelerate actin filament depolymerization. The depolymerization activity of INF2 requires its actin monomer-binding WASP homology 2 (WH2) motif. In this study, we show that INF2 is peripherally …
WebInf2 Mouse Gene Details inverted formin, FH2 and WH2 domain containing International Mouse Phenotyping Consortium Gene: Inf2 MGI:1917685 Gene Summary Name: inverted formin, FH2 and WH2 domain containing Synonyms: EG629699, 2610204M08Rik Order Alleles IMPC Data Collections Body Weight Measurements No Embryo Imaging Data … WebIn the literature, the clinical term 'nephrotic syndrome' (NPHS) and the pathologic term 'focal segmental glomerulosclerosis' (FSGS) have often been used to refer to the same …
WebMonoclonal Antibody for studying INF2. Validated for Western Blotting, Immunoprecipitation. Highly specific and rigorously validated in-house, INF2 (E7H5D) Rabbit Monoclonal Antibody (CST #41081) is ready to ship. Web13 jan. 2024 · NM_022489.4(INF2):c.507+7G>A Gene: INF2:inverted formin 2 [Gene - OMIM - HGNC]Variant type: single nucleotide variant Cytogenetic location: 14q32.33 Genomic location:
Web29 mei 2024 · Results. A total of six new pathogenic mutation sites, one complex heterozygous mutation at COL4A3, and a combined mutation of COL4A5 and INF2 (OMIM 610982) were identified in this study. It was revealed that the clinical manifestations of X‐linked AS caused by mutations in the COL4A5 gene were more severe in males than …
Web13 feb. 2024 · Description: single nucleotide variant Variant details Conditions Gene (s) Help NM_022489.4 (INF2):c.641G>A (p.Arg214His) Allele ID 16092 Variant type single nucleotide variant Variant length 1 bp Cytogenetic location 14q32.33 Genomic location 14: 104703428 (GRCh38) GRCh38 UCSC 14: 105169765 (GRCh37) GRCh37 UCSC HGVS … suits of tarot meaningWeb1 jan. 2013 · INF2 enhances Drp1-mitochondria association. ( A) Confocal micrographs of U2OS cells labeled with an antibody against Drp1 (green) after indicated siRNA treatment. MitoTracker staining (red), and 4′,6-diamidino-2-phenylindole (DAPI) staining (blue). (Insets) Close-ups of peripheral cellular regions. Scale bar, 20 μm. suits of james bondWeb26 okt. 2024 · INF2 is a critical mutation gene that causes FSGS and FSGS-associated CMT by multiple pathogenic changes: reduced interaction of INF2 with CAP–KAc-actin; … pair in mathWeb4 feb. 2024 · INF2 encodes an actin regulatory protein of the formin family, which plays an important role in maintaining podocyte plasticity [4, 5]. INF2 mutations have been … pair inside hollow cog danwordWeb13 jan. 2024 · NM_022489.4(INF2):c.507+7G>A Gene: INF2:inverted formin 2 [Gene - OMIM - HGNC] Variant type: single nucleotide variant Cytogenetic location: 14q32.33 … suits online for saleWeb25 jan. 2024 · NM_022489.4(INF2):c.529C>T (p.Arg177Cys) AND Focal segmental glomerulosclerosis 5 Clinical significance: Likely pathogenic (Last evaluated: Jan 25, 2024) Review status: 1 star out of maximum of 4 stars suits onlyWeb28 dec. 2024 · INF2 functioned upstream of DRP1. Actin filaments appeared to accumulate between mitochondria and INF2-enriched ER membranes at constriction sites. Thus, … suits of the 1920s