Cell Biology Antibodies 1
Anti-INF2 Antibody (CAB10038)
- SKU:
- CAB10038
- Product Type:
- Antibody
- Reactivity:
- Human
- Host Species:
- Rabbit
- Isotype:
- IgG
- Antibody Type:
- Polyclonal Antibody
- Research Area:
- Cell Biology
Description
Antibody Name: | Anti-INF2 Antibody |
Antibody SKU: | CAB10038 |
Antibody Size: | 20uL, 50uL, 100uL |
Application: | WB |
Reactivity: | Human |
Host Species: | Rabbit |
Immunogen: | Recombinant fusion protein containing a sequence corresponding to amino acids 1-190 of human INF2 (NP_116103.1). |
Application: | WB |
Recommended Dilution: | WB 1:500 - 1:1000 |
Reactivity: | Human |
Positive Samples: | 293T, HeLa, BT-474, HepG2 |
Immunogen: | Recombinant fusion protein containing a sequence corresponding to amino acids 1-190 of human INF2 (NP_116103.1). |
Purification Method: | Affinity purification |
Storage Buffer: | Store at -20'C. Avoid freeze / thaw cycles. Buffer: PBS with 0.02% sodium azide, 50% glycerol, pH7.3. |
Isotype: | IgG |
Sequence: | MSVK EGAQ RKWA ALKE KLGP QDSD PTEA NLES ADPE LCIR LLQM PSVV NYSG LRKR LEGS DGGW MVQF LEQS GLDL LLEA LARL SGRG VARI SDAL LQLT CVSC VRAV MNSR QGIE YILS NQGY VRQL SQAL DTSN VMVK KQVF ELLA ALCI YSPE GHVL TLDA LDHY KTVC SQQY RFSI VMNE LSGS DN |
Gene ID: | 64423 |
Uniprot: | Q27J81 |
Cellular Location: | Cytoplasm, perinuclear region |
Calculated MW: | 25kDa/134kDa/135kDa |
Observed MW: | 180kDa |
Synonyms: | INF2, C14orf151, C14orf173, CMTDIE, FSGS5, pp9484 |
Background: | 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. |
UniProt Protein Function: | 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. |
UniProt Protein Details: | 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 |
NCBI Summary: | 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 Code: | Q27J81 |
NCBI GenInfo Identifier: | 166215588 |
NCBI Gene ID: | 64423 |
NCBI Accession: | Q27J81.2 |
UniProt Secondary Accession: | Q27J81,Q27J83, Q69YL8, Q6P1X7, Q6PK22, Q86TR7, Q9BRM1 Q9H6N1, |
UniProt Related Accession: | Q27J81 |
Molecular Weight: | 25,954 Da |
NCBI Full Name: | Inverted formin-2 |
NCBI Synonym Full Names: | inverted formin, FH2 and WH2 domain containing |
NCBI Official Symbol: | INF2 |
NCBI Official Synonym Symbols: | FSGS5; CMTDIE; pp9484; C14orf151; C14orf173 |
NCBI Protein Information: | inverted formin-2 |
UniProt Protein Name: | Inverted formin-2 |
UniProt Synonym Protein Names: | HBEBP2-binding protein C |
Protein Family: | Inverted formin |
UniProt Gene Name: | INF2 |
UniProt Entry Name: | INF2_HUMAN |
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