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- Table of Contents
Facts about Laforin, isoform 9.
Dephosphorylates phosphotyrosine and synthetic substrates, such as para- nitrophenylphosphate (pNPP), also has low action with phosphoserine and phosphothreonine substrates (in vitro) (PubMed:11001928, PubMed:11220751, PubMed:11739371, PubMed:14532330, PubMed:16971387, PubMed:18617530, PubMed:22036712, PubMed:23922729, PubMed:14722920). Forms a complex with NHLRC1/malin and HSP70, which inhibits the cellular toxicity of misfolded proteins by promoting their degradation through the ubiquitin-proteasome system (UPS).
Human | |
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Gene Name: | EPM2A |
Uniprot: | B3EWF7 |
Entrez: | 7957 |
Belongs to: |
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No superfamily |
EC 3.1.3.16; EC 3.1.3.48; epilepsy, progressive myoclonus type 2, Lafora disease (laforin); epilepsy, progressive myoclonus type 2A, Lafora disease (laforin); EPM2; EPM2A; Lafora PTPase; Laforin; LAFPTPase; LD; LDE; MELF
Mass (kDA):
35.169 kDA
Human | |
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Location: | 6q24.3 |
Sequence: | 6; NC_000006.12 (145382540..145736023, complement) |
Nucleus.
PMID: 22036712 by Dubey D., et al. Identification and characterization of novel splice variants of the human EPM2A gene mutated in Lafora progressive myoclonus epilepsy.