| Gene Symbol |
EPM2A
|
| Entrez Gene |
7957
|
| Alt Symbol |
EPM2, MELF
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
epilepsy, progressive myoclonus type 2A, Lafora disease (laforin)
|
| Other Description |
LAFPTPase|epilepsy, progressive myoclonus type 2, Lafora disease (laforin)|glucan phosphatase|lafora PTPase|laforin
|
| Swissprots |
Q9BS66 Q6IS15 B3KMU5 O95278 Q9UEN2 Q5T3F5 Q8IX25 O95483 B4DRZ2 Q8IU96 Q8IX24
|
| Accessions |
B3EWF7 EAW47842 EAW47843 EAW47844 O95278 AF084535 AAC83347 AF284580 AAG18377 AF454491 AAO15523 AF454492 AAO15524 AF454493 AAO15525 AF454494 AAO15526 AJ130763 CAA10199 AJ130764 CAA10200 AK022721 BAG51107 AK299497 BAG61454 AW291546 BC005286 AAH05286 BC070047 AAH70047 BI463677 HG499755 XM_006715564 XP_006715627 XM_011536113 XP_011534415 XM_011536114 XP_011534416 XM_011536115 XP_011534417 XM_011536116 XP_011534418 NM_001018041 NP_001018051 NM_005670 NP_005661
|
| Function |
Has both dual-specificity protein phosphatase and glucan phosphatase activities. Together with the E3 ubiquitin ligase NHLRC1/malin, appears to be involved in the clearance of toxic polyglucosan and protein aggregates via multiple pathways. Dephosphorylates phosphotyrosine, phosphoserine and phosphothreonine substrates in vitro. Has also been shown to dephosphorylate MAPT. Shows strong phosphatase activity towards complex carbohydrates in vitro, avoiding glycogen hyperphosphorylation which is associated with reduced branching and formation of insoluble aggregates. Forms a complex with NHLRC1/malin and HSP70, which suppresses the cellular toxicity of misfolded proteins by promoting their degradation through the ubiquitin-proteasome system (UPS). Acts as a scaffold protein to facilitate PPP1R3C/PTG ubiquitination by NHLRC1/malin. Also promotes proteasome-independent protein degradation through the macroautophagy pathway. Isoform 2, an inactive phosphatase, could function as a dominant-ne
|
| Subcellular Location |
Isoform 5: Cytoplasm. Nucleus.
|
| Tissue Specificity |
Expressed in heart, skeletal muscle, kidney, pancreas and brain. Isoform 4 is also expressed in the placenta. {ECO:0000269|PubMed:9771710}.
|