Epilepsy, Progressive Myoclonus Type 2A (Lafora Disease, EPM2A, Laforin, LD, LDE, EPM2, MELF, LAFPTPase, FLJ11207, KIAA0766)[Epilepsy, Progressive Myoclonus Type 2A]

• Catalog number
  MBS601925
• Price
  Please ask
• Size
  NA

• Products_type
  Antibody

• Gene target
  Epilepsy   Progressive   Myoclonus   Lafora   Disease   EPM2A   Laforin   LDE   EPM2   MELF   LAFPTPase   FLJ11207   KIAA0766   [Epilepsy   Progressive   Myoclonus   2A]  
• Gene symbol
  EPM2AIP1, EPM2A, EPM2A-DT
• Short name
  Epilepsy, Progressive Myoclonus 2A (Lafora Disease, EPM2A, Laforin, LD, LDE, EPM2, MELF, LAFPTPase, FLJ11207, KIAA0766)[Epilepsy, Progressive Myoclonus 2A]
• Host
  Mouse
• Alternative name
  Epilepsy, Progressive Myoclonus classification 2A (Lafora Disease, EPM2A, Laforin, LD, LDE, EPM2, MELF, LAFPTPase, FLJ11207, KIAA0766)[Epilepsy, Progressive Myoclonus classification 2A]

Gene info

• Identity
  HGNC:19735
• Gene
  EPM2AIP1
• Long gene name
  EPM2A interacting protein 1
• Synonyms gene name
  • EPM2A (laforin) interacting protein 1
• Synonyms
  • KIAA0766
  • FLJ11207
• Synonyms name
  • laforin interacting protein 1
• GenBank acession
  • AB018309
• Locus
  3p22.2
• Discovery year
  2003-03-26
• Entrez gene record
  9852
• RefSeq identity
  • NM_014805
• VEGA ID
  OTTHUMG00000185486

Gene info

• Identity
  HGNC:3413
• Gene
  EPM2A
• Long gene name
  EPM2A glucan phosphatase, laforin
• Synonyms gene name
  • epilepsy, progressive myoclonus type 2, Lafora disease (laforin)
  • epilepsy, progressive myoclonus type 2A, Lafora disease (laforin)
  • EPM2A, laforin glucan phosphatase
• Synonyms
  • LDE
  • LD
• GenBank acession
  • AF284580
• Locus
  6q24.3
• Discovery year
  1998-10-01
• Entrez gene record
  7957
• Pubmed identfication
  • 9222970
  • 7485240
• Classification
  • Atypical dual specificity phosphatases
• VEGA ID
  OTTHUMG00000015747

Gene info

• Identity
  HGNC:48990
• Gene
  EPM2A-DT
• Long gene name
  EPM2A divergent transcript
• Synonyms gene
  • FBXO30-DT
• Synonyms gene name
  • FBXO30 divergent transcript
• Locus
  6q24.3
• Discovery year
  2020-01-17
• Entrez gene record
  100507557
• Pubmed identfication
  • 32079618
• RefSeq identity
  • NR_038244
• Classification
  • Divergent transcripts

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