catalog number :
MBS425621
products full name :
Laforin Immunizing Peptide
products short name :
Laforin
products name syn :
epilepsy; progressive myoclonus type 2; Lafora disease (laforin); laforin; EPM2A; epilepsy; progressive myoclonus type 2A; Lafora disease (laforin); EPM2; MELF; epilepsy, progressive myoclonus type 2, Lafora disease (laforin); laforin; EPM2A; epilepsy, pr
other names :
laforin isoform a; Laforin; laforin; EPM2A; LAFPTPase; lafora PTPase; glucan phosphatase; epilepsy, progressive myoclonus type 2, Lafora disease (laforin); epilepsy, progressive myoclonus type 2A, Lafora disease (laforin); Glucan phosphatase; Lafora PTPase; LAFPTPase
products gene name :
EPM2A
other gene names :
EPM2A; EPM2A; EPM2; MELF; LAFPTPase
uniprot entry name :
EPM2A_HUMAN
reactivity :
Human, Mouse, Rat, Dog, Cow
sequence :
C-EATGHTNEMKHTTD
form :
100ug of dried peptide
storage stability :
Shipped at ambient temperature, store at -20 degree C
other info1 :
Corresponding Antibody: Catalog #MBS421876
ncbi acc num :
NP_005661.1
ncbi gb acc num :
NM_005670.3
ncbi mol weight :
35,169 Da
ncbi pathways :
Disease Pathway 530764!!Glucose Metabolism Pathway 106199!!Glycogen Storage Diseases Pathway 980468!!Glycogen Synthesis Pathway 905990!!Metabolism Pathway 477135!!Metabolism Of Carbohydrates Pathway 106196!!Myoclonic Epilepsy Of Lafora Pathway 980469
ncbi summary :
This gene encodes a dual-specificity phosphatase that associates with polyribosomes. The encoded protein may be involved in the regulation of glycogen metabolism. Mutations in this gene have been associated with myoclonic epilepsy of Lafora. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2008]