Product Information
33843-1-PBS targets EPM2A/Laforin in WB, IP, Indirect ELISA applications and shows reactivity with human, mouse, rat samples.
| Tested Reactivity | human, mouse, rat |
| Host / Isotype | Rabbit / IgG |
| Class | Polyclonal |
| Type | Antibody |
| Immunogen |
CatNo: Ag36983 Product name: Recombinant human EPM2A protein Source: e coli.-derived, PGEX-4T Tag: GST Domain: 1-331 aa of BC070047 Sequence: MRFRFGVVVPPAVAGARPELLVVGSRPELGRWEPRGAVRLRPAGTAAGDGALALQEPGLWLGEVELAAEEAAQDGAEPGRVDTFWYKFLKREPGGELSWEGNGPHHDRCCTYNENNLVDGVYCLPIGHWIEATGHTNEMKHTTDFYFNIAGHQAMHYSRILPNIWLGSCPRQVEHVTIKLKHELGITAVMNFKTEWDIVQNSSGCNRYPEPMTPDTMIKLYREEGLAYIWMPTPDMSTEGRVQMLPQAVCLLHALLEKGHIVYVHCNAGVGRSTAAVCGWLQYVMGWNLRKVQYFLMAKRPAVYIDEEALARAQEDFFQKFGKVRSSVCSL Predict reactive species |
| Full Name | epilepsy, progressive myoclonus type 2A, Lafora disease (laforin) |
| Calculated Molecular Weight | 37 kDa |
| Observed Molecular Weight | 37 kDa |
| GenBank Accession Number | BC070047 |
| Gene Symbol | EPM2A |
| Gene ID (NCBI) | 7957 |
| RRID | AB_3743091 |
| Conjugate | Unconjugated |
| Form | Liquid |
| Purification Method | Antigen affinity Purification |
| UNIPROT ID | O95278 |
| Storage Buffer | PBS only, pH 7.3. |
| Storage Conditions | Store at -80°C. |
Background Information
EPM2A encodes the glucan phosphatase laforin, a type of dual specificity phosphatase, and EPM2B encodes malin, an E3-ubiquitin ligase (PMID: 22364389). Laforin is encoded by the 130 Kb four-exon gene EPM2A on chromosome 6q24 of the human genome. It is ubiquitously expressed in all tissues, although brain, skeletal muscle, heart and liver have higher levels of expression (PMID: 9931343). Laforin has also been shown to interact with other regulatory subunits of PP1, including GL and R6, members of the same family as protein targeting to glycogen (PTG) (PMID: 27702709). In the brain, laforin is expressed predominantly in cerebellum, hippocampus, frontal cortex and olfactory bulb. Laforin expression increases after birth, reaching a maximum during the adulthood (PMID: 11355878). EPM2A alternative splicing results in two laforin isoforms that are identical from amino acid 1-309, but contain a divergent C-terminal domain. Isoform laforin-331 is the most abundant form, possesses phosphatase activity, and when overexpressed in cell culture localizes to the cytoplasm and ER (PMID: 18617530).
