Signal Transduction Antibodies 1
Anti-SCN2A Antibody (CAB10574)
- SKU:
- CAB10574
- Product Type:
- Antibody
- Reactivity:
- Human
- Host Species:
- Rabbit
- Isotype:
- IgG
- Antibody Type:
- Polyclonal Antibody
- Research Area:
- Signal Transduction
Description
Antibody Name: | Anti-SCN2A Antibody |
Antibody SKU: | CAB10574 |
Antibody Size: | 20uL, 50uL, 100uL |
Application: | WB |
Reactivity: | Human |
Host Species: | Rabbit |
Immunogen: | Recombinant fusion protein containing a sequence corresponding to amino acids 275-401 of human SCN2A (NP_001035232.1). |
Application: | WB |
Recommended Dilution: | WB 1:1000 - 1:2000 |
Reactivity: | Human |
Positive Samples: | U-87MG, K-562 |
Immunogen: | Recombinant fusion protein containing a sequence corresponding to amino acids 275-401 of human SCN2A (NP_001035232.1). |
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: | RNKC LQWP PDNS SFEI NITS FFNN SLDG NGTT FNRT VSIF NWDE YIED KSHF YFLE GQND ALLC GNSS DAGQ CPEG YICV KAGR NPNY GYTS FDTF SWAF LSLF RLMT QDFW ENLY QLTL RAAG KTY |
Gene ID: | 6326 |
Uniprot: | Q99250 |
Cellular Location: | Cell membrane, Multi-pass membrane protein |
Calculated MW: | 227kDa |
Observed MW: | 250kDa |
Synonyms: | SCN2A, BFIC3, BFIS3, BFNIS, EIEE11, HBA, HBSCI, HBSCII, NAC2, Na(v)1.2, Nav1.2, SCN2A1, SCN2A2 |
Background: | Voltage-gated sodium channels are transmembrane glycoprotein complexes composed of a large alpha subunit with four repeat domains, each of which is composed of six membrane-spanning segments, and one or more regulatory beta subunits. Voltage-gated sodium channels function in the generation and propagation of action potentials in neurons and muscle. This gene encodes one member of the sodium channel alpha subunit gene family. Allelic variants of this gene are associated with seizure disorders and autism spectrum disorder. Alternative splicing results in multiple transcript variants. |
UniProt Protein Function: | SCN2A: Mediates the voltage-dependent sodium ion permeability of excitable membranes. Assuming opened or closed conformations in response to the voltage difference across the membrane, the protein forms a sodium-selective channel through which Na(+) ions may pass in accordance with their electrochemical gradient. Defects in SCN2A are the cause of seizures, benign familial infantile type 3 (BFIS3). An autosomal dominant disorder in which afebrile seizures occur in clusters during the first year of life, without neurologic sequelae. Defects in SCN2A are the cause of epileptic encephalopathy early infantile type 11 (EIEE11). EIEE11 is an autosomal dominant seizure disorder characterized by infantile onset of refractory seizures with resultant delayed neurologic development and persistent neurologic abnormalities. Belongs to the sodium channel (TC 1.A.1.10) family. Nav1.2/SCN2A subfamily. 2 isoforms of the human protein are produced by alternative splicing. |
UniProt Protein Details: | Protein type:Channel, sodium; Membrane protein, integral; Membrane protein, multi-pass Chromosomal Location of Human Ortholog: 2q24.3 Cellular Component: axon; integral to plasma membrane; intrinsic to plasma membrane Molecular Function:voltage-gated sodium channel activity Biological Process: generation of action potential; myelination; sodium ion transport Disease: Epileptic Encephalopathy, Early Infantile, 11; Seizures, Benign Familial Infantile, 3 |
NCBI Summary: | Voltage-gated sodium channels are transmembrane glycoprotein complexes composed of a large alpha subunit with four repeat domains, each of which is composed of six membrane-spanning segments, and one or more regulatory beta subunits. Voltage-gated sodium channels function in the generation and propagation of action potentials in neurons and muscle. This gene encodes one member of the sodium channel alpha subunit gene family. Allelic variants of this gene are associated with seizure disorders and autism spectrum disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2016] |
UniProt Code: | Q99250 |
NCBI GenInfo Identifier: | 25014053 |
NCBI Gene ID: | 6326 |
NCBI Accession: | Q99250.3 |
UniProt Secondary Accession: | Q99250,Q14472, Q53T77, Q9BZC9, Q9BZD0, A6NC14, A6NIQ5 |
UniProt Related Accession: | Q99250 |
Molecular Weight: | 228kDa |
NCBI Full Name: | Sodium channel protein type 2 subunit alpha |
NCBI Synonym Full Names: | sodium voltage-gated channel alpha subunit 2 |
NCBI Official Symbol: | SCN2A |
NCBI Official Synonym Symbols: | HBA; NAC2; BFIC3; BFIS3; BFNIS; HBSCI; EIEE11; HBSCII; Nav1.2; SCN2A1; SCN2A2; Na(v)1.2 |
NCBI Protein Information: | sodium channel protein type 2 subunit alpha |
UniProt Protein Name: | Sodium channel protein type 2 subunit alpha |
UniProt Synonym Protein Names: | HBSC II; Sodium channel protein brain II subunit alpha; Sodium channel protein type II subunit alpha; Voltage-gated sodium channel subunit alpha Nav1.2 |
Protein Family: | Sodium channel protein |
UniProt Gene Name: | SCN2A |
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