Cell Biology Antibodies 6
Anti-PRRT2 Antibody (CAB16027)
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- SKU:
- CAB16027
- Product Type:
- Antibody
- Reactivity:
- Human
- Reactivity:
- Mouse
- Host Species:
- Rabbit
- Isotype:
- IgG
- Antibody Type:
- Polyclonal Antibody
- Research Area:
- Cell Biology
Description
| Antibody Name: | Anti-PRRT2 Antibody |
| Antibody SKU: | CAB16027 |
| Antibody Size: | 20uL, 50uL, 100uL |
| Application: | WB |
| Reactivity: | Human, Mouse |
| Host Species: | Rabbit |
| Immunogen: | Recombinant fusion protein containing a sequence corresponding to amino acids 20-130 of human PRRT2 (NP_660282.2). |
| Application: | WB |
| Recommended Dilution: | WB 1:500 - 1:2000 |
| Reactivity: | Human, Mouse |
| Positive Samples: | U-87MG, Mouse brain |
| Immunogen: | Recombinant fusion protein containing a sequence corresponding to amino acids 20-130 of human PRRT2 (NP_660282.2). |
| 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: | VPGE GPGH SEAE TGPP QVLA GVPD QPEA PQPG PNTT AAPV DSGP KAGL APET TETP AGAS ETAQ ATDL SLSP GGES KANC SPED PCQE TVSK PEVS KEAT ADQG SRLE SAA |
| Gene ID: | 112476 |
| Uniprot: | Q7Z6L0 |
| Cellular Location: | |
| Calculated MW: | 30kDa/34kDa/40kDa |
| Observed MW: | 35kDa |
| Synonyms: | PRRT2, BFIC2, BFIS2, DSPB3, DYT10, EKD1, FICCA, ICCA, IFITMD1, PKC |
| Background: | This gene encodes a transmembrane protein containing a proline-rich domain in its N-terminal half. Studies in mice suggest that it is predominantly expressed in brain and spinal cord in embryonic and postnatal stages. Mutations in this gene are associated with episodic kinesigenic dyskinesia-1. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. |
| UniProt Protein Function: | PRRT2: Defects in PRRT2 are the cause of episodic kinesigenic dyskinesia type 1 (EKD1). An autosomal dominant neurologic condition characterized by recurrent and brief attacks of abnormal involuntary movements, triggered by sudden voluntary movement. These attacks usually have onset during childhood or early adulthood and can involve dystonic postures, chorea, or athetosis. Disease-causing mutations that produce truncation of the C-terminus of the protein alter subcellular location, from plasma membrane to cytosplasm (PubMed:22101681). Defects in PRRT2 are the cause of convulsions, familial infantile, with paroxysmal choreoathetosis (ICCA). A syndrome characterized by clinical features of benign familial infantile seizures and episodic kinesigenic dyskinesia. Benign familial infantile seizures is a disorder characterized by afebrile seizures occurring during the first year of life, without neurologic sequelae. Paroxysmal choreoathetosis is a disorder of involuntary movements characterized by attacks that occur spontaneously or are induced by a variety of stimuli. Defects in PRRT2 are the cause of seizures, benign familial infantile type 2 (BFIS2). An autosomal dominant disorder in which afebrile seizures occur in clusters during the first year of life, without neurologic sequelae. Belongs to the CD225/Dispanin family. 3 isoforms of the human protein are produced by alternative splicing. |
| UniProt Protein Details: | Protein type:Membrane protein, integral; Membrane protein, multi-pass Chromosomal Location of Human Ortholog: 16p11.2 Cellular Component: integral to membrane; plasma membrane; synapse; cell junction Biological Process: neuromuscular process controlling posture; response to biotic stimulus Disease: Episodic Kinesigenic Dyskinesia 1 |
| NCBI Summary: | This gene encodes a transmembrane protein containing a proline-rich domain in its N-terminal half. Studies in mice suggest that it is predominantly expressed in brain and spinal cord in embryonic and postnatal stages. Mutations in this gene are associated with episodic kinesigenic dyskinesia-1. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2012] |
| UniProt Code: | Q7Z6L0 |
| NCBI GenInfo Identifier: | 156523246 |
| NCBI Gene ID: | 112476 |
| NCBI Accession: | NP_660282.2 |
| UniProt Secondary Accession: | Q7Z6L0,Q8N2N8, Q8NAQ7, Q8ND36, Q96FA8, A8K8M8, |
| UniProt Related Accession: | Q7Z6L0 |
| Molecular Weight: | 30,653 Da |
| NCBI Full Name: | proline-rich transmembrane protein 2 isoform 1 |
| NCBI Synonym Full Names: | proline-rich transmembrane protein 2 |
| NCBI Official Symbol: | PRRT2 |
| NCBI Official Synonym Symbols: | PKC; EKD1; ICCA; BFIC2; BFIS2; DSPB3; DYT10; FICCA; IFITMD1 |
| NCBI Protein Information: | proline-rich transmembrane protein 2; dispanin subfamily B member 3; infantile convulsions and paroxysmal choreoathetosis; interferon induced transmembrane protein domain containing 1 |
| UniProt Protein Name: | Proline-rich transmembrane protein 2 |
| UniProt Synonym Protein Names: | Dispanin subfamily B member 3; DSPB3 |
| Protein Family: | Proline-rich transmembrane protein |
| UniProt Gene Name: | PRRT2 |
| UniProt Entry Name: | PRRT2_HUMAN |
 | Western blot analysis of extracts of various cell lines, using PRRT2 antibody (CAB16027) at 1:1000 dilution. Secondary antibody: HRP Goat Anti-Rabbit IgG (H+L) (CABS014) at 1:10000 dilution. Lysates/proteins: 25ug per lane. Blocking buffer: 3% nonfat dry milk in TBST. Detection: ECL Basic Kit (RM00020). Exposure time: 5s. |
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