Figure 1
INF2 cdna clone
INF2 cDNA Clone
Figure 1
Figure 1
NCBI and Uniprot Product Information
NCBI Description
This gene represents a member of the formin family of proteins. It is considered a diaphanous formin due to the presence of a diaphanous inhibitory domain located at the N-terminus of the encoded protein. Studies of a similar mouse protein indicate that the protein encoded by this locus may function in polymerization and depolymerization of actin filaments. Mutations at this locus have been associated with focal segmental glomerulosclerosis 5.[provided by RefSeq, Aug 2010]
Uniprot Description
INF2: Severs actin filaments and accelerates their polymerization and depolymerization. Defects in INF2 are the cause of focal segmental glomerulosclerosis type 5 (FSGS5). A renal pathology defined by the presence of segmental sclerosis in glomeruli and resulting in proteinuria, reduced glomerular filtration rate and edema. Renal insufficiency often progresses to end-stage renal disease, a highly morbid state requiring either dialysis therapy or kidney transplantation. Defects in INF2 are the cause of Charcot-Marie-Tooth disease, dominant intermediate type E (CMTDIE). A form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. The dominant intermediate type E is characterized by clinical and pathologic features intermediate between demyelinating and axonal peripheral neuropathies, and motor median nerve conduction velocities ranging from 25 to 45 m/sec. Patients additionally manifest focal segmental glomerulonephritis, proteinuria, progression to end- stage renal disease, and a characteristic histologic pattern on renal biopsy. Belongs to the formin homology family. 3 isoforms of the human protein are produced by alternative splicing.
Protein type: Unknown function
Chromosomal Location of Human Ortholog: 14q32.33
Cellular Component: perinuclear region of cytoplasm
Disease: Charcot-marie-tooth Disease, Dominant Intermediate E; Focal Segmental Glomerulosclerosis 5
Research Articles on INF2
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Product Notes
The INF2 inf2 (Catalog #AAA1266219) is a cDNA Clone and is intended for research purposes only. The product is available for immediate purchase. The amino acid sequence is listed below: atgtcggtga aggagggcgc acagcgcaag tgggcagcgc tgaaggagaa gctggggcca caggattcgg accccacgga ggccaacctg gagagcgcgg accctgagct gtgcatccgg ctgctccaga tgccctctgt ggtcaactac tccggcctgc gcaagcgcct ggagggcagc gacggcggct ggatggtgca gttcctggag cagagcggcc tggacctgct gctggaggcg ctggcgcggc tgtcgggccg cggcgttgca cgtatctccg acgccctgct gcagctcacc tgcgtcagct gcgtgcgcgc cgtcatgaac tcgcggcagg gcatcgagta catcctcagc aaccagggct acgtgcgcca gctctcccag gccctggaca catccaacgt gatggtgaag aagcaggtgt ttgagctact ggctgccctg tgcatctact ctcccgaggg ccacgtgctg accctggacg ccctggacca ctacaagacg gtgtgcagcc agcagtaccg cttcagcatt gtcatgaacg agctctccgg cagcgacaac gtgccctacg tggtcaccct gcttagcgtg atcaacgccg tcatcttggg ccccgaggac ctgcgcgcgc gcacccagct gcggaacgag tttatcgggc tgcagctgct ggacgtcctg gctcgcctgc ggtga. It is sometimes possible for the material contained within the vial of "INF2, cDNA Clone" to become dispersed throughout the inside of the vial, particularly around the seal of said vial, during shipment and storage. We always suggest centrifuging these vials to consolidate all of the liquid away from the lid and to the bottom of the vial prior to opening. Please be advised that certain products may require dry ice for shipping and that, if this is the case, an additional dry ice fee may also be required.Precautions
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