EPM2A (NM_005670) Human Untagged Clone

CAT#: SC116585

EPM2A (untagged)-Human epilepsy, progressive myoclonus type 2A, Lafora disease (laforin) (EPM2A), transcript variant 1

Specifications

Product Data

• Type: Human Untagged Clone
• Tag: Tag Free
• Symbol: EPM2A
• Synonyms: EPM2; MELF
• Vector: pCMV6-XL5
• E. coli Selection: Ampicillin (100 ug/mL)
• Mammalian Cell Selection: None
• Sequence Data:
  Fully Sequenced ORF

  >NCBI ORF sequence for NM_005670, the custom clone sequence may differ by one or more nucleotides
  
  
  ATGCGCTTCCGCTTTGGGGTGGTGGTGCCACCCGCCGTGGCCGGCGCCCGGCCGGAGCTGCTGGTGGTGG
  GGTCGCGGCCCGAGCTGGGGCGTTGGGAGCCGCGCGGTGCCGTCCGCCTGAGGCCGGCCGGCACCGCGGC
  GGGCGACGGGGCCCTGGCCCTGCAGGAGCCGGGCCTGTGGCTCGGGGAGGTGGAGCTGGCGGCCGAGGAG
  GCGGCGCAGGACGGGGCGGAGCCGGGCCGCGTGGACACGTTCTGGTACAAGTTCCTGAAGCGGGAGCCGG
  GAGGAGAGCTCTCCTGGGAAGGCAATGGACCTCATCATGACCGTTGCTGTACTTACAATGAAAACAACTT
  GGTGGATGGTGTGTATTGTCTCCCAATAGGACACTGGATTGAGGCCACTGGGCACACCAATGAAATGAAG
  CACACAACAGACTTCTATTTTAATATTGCAGGCCACCAAGCCATGCATTATTCAAGAATTCTACCAAATA
  TCTGGCTGGGTAGCTGCCCTCGTCAGGTGGAACATGTAACCATCAAACTGAAGCATGAATTGGGGATTAC
  AGCTGTAATGAATTTCCAGACTGAATGGGATATTGTACAGAATTCCTCAGGCTGTAACCGCTACCCAGAG
  CCCATGACTCCAGACACTATGATTAAACTATATAGGGAAGAAGGCTTGGCCTACATCTGGATGCCAACAC
  CAGATATGAGCACCGAAGGCCGAGTACAGATGCTGCCCCAGGCGGTGTGCCTGCTGCATGCGCTGCTGGA
  GAAGGGACACATCGTGTACGTGCACTGCAACGCTGGGGTGGGCCGCTCCACCGCGGCTGTCTGCGGCTGG
  CTCCAGTATGTGATGGGCTGGAATCTGAGGAAGGTGCAGTATTTCCTCATGGCCAAGAGGCCGGCTGTCT
  ACATTGACGAAGAGGCCTTGGCCCGGGCACAAGAAGATTTTTTCCAGAAATTTGGGAAGGTTCGTTCTTC
  TGTGTGTAGCCTGTAG
  
  
  5' Read Nucleotide Sequence

  >OriGene 5' read for NM_005670 unedited
  GTAATACGACTCACTATAGGGCGGCCGCGAATTCGGCACGAGGCCTCGTGCCGAATTCGG
  CACGAGGGCTCGGGCCGCGCCTGCCGGCCGCGGGGACTCCGGGCCCGGGTATTCGCGCCG
  CCGCCGCCCGCCATGCGCTTCCGCTTTGGGGTGGTGGTGCCACCCGCCGTGGCCGGCGCC
  CGGCCGGAGCTGCTGGTGGTGGGGTCGCGGCCCGAGCTGGGGCGTTGGGACCGGCGGCGG
  GTGCCGTCCGCCTGAAGCCGGCCGGCACCGCGGCGGGCGACGGGGCCCTGGCGCTGCAAG
  AGCCGGGCCTGTGGCTCGGGGAGGTGGAGCTGGCGGCCGAGGAGGCGGCGCAGGACGGGG
  CGGAGCCGGGCCGCGTGGACACGTTCTGGTACAAGTTCCTGAAGCGGGAGCCGGGAGGAG
  AGCTCTCCTGGGAAGGCAATGGACCTCATCATGACCGTTGCTGTACTTACAATGAAAACA
  ACTTGGTGGATGGTGTGTATTGTCTCCCAATAGGACACTGGATTGAGGCCACTGGGCACA
  CCAATGAAATGAAGCACACAACAGACTTCTATTTTAATATTGCATGCCACCAAGCCATGC
  ATTATTCAAGAATTCTACCAAATATCTGGCTGGGTAACTGCCCTCGTCAGGTGGAACATG
  TAACCATCAAACTGAAGCATGAATTGGGGATTACAGCTGAAATGAATCTCCATATGAATG
  GGATATTGTACATAATCCCCCCAGCTGTAACCGCTACCCAAAGCCATGACTTCAGACCTA
  TGATCAAACTTATACGGAAAAAAGCTTTGCCACATCTGGATGCAAACCAGAATTAATACC
  CAGCCTACCCAAACCCGCCCATTAGGTGGCTACCCCACGCCCGGGGAAAAGAAAACCAGT
  ACCCCATGAAACTTCGCCAA
  
  3' Read Nucleotide Sequence

  >OriGene 3' read for NM_005670 unedited
  GCCGCAATCTAAAGTCGAGTTTTTTTTTTTTTTTTTTCTTTTTAAATGCTTTTATTTGCC
  AAAAGTTTTGGGTGATTTTGAAATACATTAGACATCCCATTCATTGAGGAAAAAGACAGT
  TTATTCCAAAACATTCTTTAATAGTCCTAAACTGATTTTGTCTATCAGAGCAAAAGGAAC
  AAAGGTAAAAATCCACCTGAAAAAAGATCTTTGTATCATGGAAATTATGAAGCTGGATTT
  CTTAGACATTAAAGAAATTCACAGACCCACATAGTTTAAAAATTTAATTTTTAAGATTAA
  ATTTTCACAACACATTATGACTGTAAATGAGTTACCTGAATACCAATTATTACCTCTAGT
  TATTTTTAGCAAGGGAGCTGGACTTCACTTTACTTAATGCTAGCTTATAAATTTAACTTT
  GTAAAATTATAGTGGAAATGTGTCCTGGCTAGCTGCCTCTGCCCAAAGCAAATGTCATCT
  CCCCTAAGTGCCACAGTTCTATCTCCCCGTCCTCTGAGCTCCACTGAAACTTACCTTGTA
  TCCTTCTTGTCCCCCACGCCTTCTAAATAAGAGTCTCTTGCATCTATCAATATGTGTTTG
  TGGAAGAAAGGAAGGTGCAGAAAAATAAATACGCATCATAGTTTAATTAGGAAAGTAAGG
  GCTTTGAATCAAACCCAGCTTTGTATCTCACTTCATCTATTTATTCATCATGTGACAATA
  GACAGTTGAGTTAACCCTTCTGACCTTAGTTTCCCCATNCTTATCATGGAGATAATGAGA
  ACCTCTTCATTGGATATTNGAAGATTAAACTGGATATGATATATATCACCTTGCACATAG
  AGCTCTCATTAAAAAACACTCTCTTTCTTCATTTAGCATTCATTCATGGCCATCCTGCAT
  ACAGTGGTGATGCAGTCTGTNCTAGCACACATTTGAGCAAGTGTCTCTTGATTCCTGAAC
  TG
  
• Restriction Sites: NotI-NotI
• ACCN: NM_005670
• ORF Size: 996 bp
• Insert Size: 3570
• OTI Disclaimer: Our molecular clone sequence data has been matched to the reference identifier above as a point of reference. Note that the complete sequence of our molecular clones may differ from the sequence published for this corresponding reference, e.g., by representing an alternative RNA splicing form or single nucleotide polymorphism (SNP).

Reference Data

• RefSeq: NM_005670.3, NP_005661.1
• RefSeq Size: 3474
• RefSeq ORF: 996
• Locus ID: 7957
• Domains: DSPc
• Protein Families: Druggable Genome, Phosphatase
• Gene Summary: This gene encodes a dual-specificity phosphatase and may be involved in the regulation of glycogen metabolism. The protein acts on complex carbohydrates to prevent glycogen hyperphosphorylation, thus avoiding the formation of insoluble aggregates. Loss-of-function mutations in this gene have been associated with Lafora disease, a rare, adult-onset recessive neurodegenerative disease, which results in myoclonus epilepsy and usually results in death several years after the onset of symptoms. The disease is characterized by the accumulation of insoluble particles called Lafora bodies, which are derived from glycogen. [provided by RefSeq, Jan 2018]
  Transcript Variant: This variant (1) represents the longest transcript, and encodes the longest isoform (a). Isoform a has been localized to the rough endoplasmic reticulum.