Dysferlin (DYSF) (NM_001130987) Human Untagged Clone

CAT#: SC326436

DYSF (untagged)-Human dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 1

Specifications

Product Data

• Type: Human Untagged Clone
• Tag: Tag Free
• Symbol: DYSF
• Synonyms: FER1L1; LGMD2B; LGMDR2; MMD1
• Vector: pCMV6-Entry
• E. coli Selection: Kanamycin (25 ug/mL)
• Mammalian Cell Selection: Neomycin
• Sequence Data:
  Fully Sequenced ORF

  >NCBI ORF sequence for NM_001130987, the custom clone sequence may differ by one or more nucleotides
  
  
  ATGCTGTGCTGCCTGCTGGTGAGGGCCAGCAACCTCCCCAGTGCGAAGAAGGACCGGCGCAGCGACCCTG
  TCGCAAGCCTGACTTTCCGAGGGGTGAAGAAGAGAACCAAAGTCATCAAGAACAGCGTGAACCCTGTATG
  GAATGAGGGATTTGAATGGGACCTCAAGGGCATCCCCCTGGACCAGGGCTCTGAGCTTCATGTGGTGGTC
  AAAGACCATGAGACGATGGGGAGGAACAGGTTCCTGGGGGAAGCCAAGGTCCCACTCCGAGAGGTCCTCG
  CCACCCCTAGTCTGTCCGCCAGCTTCAATGCCCCCCTGCTGGACACCAAGAAGCAGCCCACAGGGGCCTC
  GCTGGTCCTGCAGGTGTCCTACACACCGCTGCCTGGAGCTGTGCCCCTGTTCCCGCCCCCTACTCCTCTG
  GAGCCCTCCCCGACTCTGCCTGACCTGGATGTAGTGGCAGGCGGGGGACAGAGCCGGGCCGAGACTTGGT
  CCCTGCTCAGTGACAGCACCATGGACACGAGATACTCTGGAAAGAAGTGGCCGGCCCCCACGGACACAGG
  AGGAGAGGAAGACACAGAGGACCAGGGACTCACTGGAGATGAGGCGGAGCCATTCCTGGATCAAAGCGGA
  GGCCCGGGGGCTCCCACCACCCCAAGGAAACTACCTTCACGTCCTCCGCCCCACTACCCCGGGATCAAAA
  GAAAGCGAAGTGCGCCTACATCTAGAAAGCTGCTGTCAGACAAACCGCAGGATTTCCAGATCAGGGTCCA
  GGTGATCGAGGGGCGCCAGCTGCCGGGGGTGAACATCAAGCCTGTGGTCAAGGTTACCGCTGCAGGGCAG
  ACCAAGCGGACGCGGATCCACAAGGGAAACAGCCCACTCTTCAATGAGACTCTTTTCTTCAACTTGTTTG
  ACTCTCCTGGGGAGCTGTTTGATGAGCCCATCTTTATCACGGTGGTAGACTCTCGTTCTCTCAGGACAGA
  TGCTCTCCTCGGGGAGTTCCGGATGGACGTGGGCACCATTTACAGAGAGCCCCGGCACGCCTATCTCAGG
  AAGTGGCTGCTGCTCTCAGACCCTGATGACTTCTCTGCTGGGGCCAGAGGCTACCTGAAAACAAGCCTTT
  GTGTGCTGGGGCCTGGGGACGAAGCGCCTCTGGAGAGAAAAGACCCCTCTGAAGACAAGGAGGACATTGA
  AAGCAACCTGCTCCGGCCCACAGGCGTAGCCCTGCGAGGAGCCCACTTCTGCCTGAAGGTCTTCCGGGCC
  GAGGACTTGCCGCAGATGGACGATGCCGTGATGGACAACGTGAAACAGATCTTTGGCTTCGAGAGTAACA
  AGAAGAACTTGGTGGACCCCTTTGTGGAGGTCAGCTTTGCGGGGAAAATGCTGTGCAGCAAGATCTTGGA
  GAAGACGGCCAACCCTCAGTGGAACCAGAACATCACACTGCCTGCCATGTTTCCCTCCATGTGCGAAAAA
  ATGAGGATTCGTATCATAGACTGGGACCGCCTGACTCACAATGACATCGTGGCTACCACCTACCTGAGTA
  TGTCGAAAATCTCTGCCCCTGGAGGAGAAATAGAAGTGGATGACTACCTGGGCTTCCTCCCCACTTTTGG
  GCCCTGCTACATCAACCTCTATGGCAGTCCCAGAGAGTTCACAGGCTTCCCAGACCCCTACACAGAGCTC
  AACACAGGCAAGGGGGAAGGTGTGGCTTATCGTGGCCGGCTTCTGCTCTCCCTGGAGACCAAGCTGGTGG
  AGCACAGTGAACAGAAGGTGGAGGACCTTCCTGCGGATGACATCCTCCGGGTGGAGAAGTACCTTAGGAG
  GCGCAAGTACTCCCTGTTTGCGGCCTTCTACTCAGCCACCATGCTGCAGGATGTGGATGATGCCATCCAG
  TTTGAGGTCAGCATCGGGAACTACGGGAACAAGTTCGACATGACCTGCCTGCCGCTGGCCTCCACCACTC
  AGTACAGCCGTGCAGTCTTTGACGGGTGCCACTACTACTACCTACCCTGGGGTAACGTGAAACCTGTGGT
  GGTGCTGTCATCCTACTGGGAGGACATCAGCCATAGAATCGAGACTCAGAACCAGCTGCTTGGGATTGCT
  GACCGGCTGGAAGCTGGCCTGGAGCAGGTCCACCTGGCCCTGAAGGCGCAGTGCTCCACGGAGGACGTGG
  ACTCGCTGGTGGCTCAGCTGACGGATGAGCTCATCGCAGGCTGCAGCCAGCCTCTGGGTGACATCCATGA
  GACACCCTCTGCCACCCACCTGGACCAGTACCTGTACCAGCTGCGCACCCATCACCTGAGCCAAATCACT
  GAGGCTGCCCTGGCCCTGAAGCTCGGCCACAGTGAGCTCCCTGCAGCTCTGGAGCAGGCGGAGGACTGGC
  TCCTGCGTCTGCGTGCCCTGGCAGAGGAGCCCCAGAACAGCCTGCCGGACATCGTCATCTGGATGCTGCA
  GGGAGACAAGCGTGTGGCATACCAGCGGGTGCCCGCCCACCAAGTCCTCTTCTCCCGGCGGGGTGCCAAC
  TACTGTGGCAAGAATTGTGGGAAGCTACAGACAATCTTTCTGAAATATCCGATGGAGAAGGTGCCTGGCG
  CCCGGATGCCAGTGCAGATACGGGTCAAGCTGTGGTTTGGGCTCTCAGTGGATGAGAAGGAGTTCAACCA
  GTTTGCTGAGGGGAAGCTGTCTGTCTTTGCTGAAACCTATGAGAACGAGACTAAGTTGGCCCTTGTTGGG
  AACTGGGGCACAACGGGCCTCACCTACCCCAAGTTTTCTGACGTCACGGGCAAGATCAAGCTACCCAAGG
  ACAGCTTCCGCCCCTCGGCCGGCTGGACCTGGGCTGGAGATTGGTTCGTGTGTCCGGAGAAGACTCTGCT
  CCATGACATGGACGCCGGTCACCTGAGCTTCGTGGAAGAGGTGTTTGAGAACCAGACCCGGCTTCCCGGA
  GGCCAGTGGATCTACATGAGTGACAACTACACCGATGTGAACGGGGAGAAGGTGCTTCCCAAGGATGACA
  TTGAGTGCCCACTGGGCTGGAAGTGGGAAGATGAGGAATGGTCCACAGACCTCAACCGGGCTGTCGATGA
  GCAAGGCTGGGAGTATAGCATCACCATCCCCCCGGAGCGGAAGCCGAAGCACTGGGTCCCTGCTGAGAAG
  ATGTACTACACACACCGACGGCGGCGCTGGGTGCGCCTGCGCAGGAGGGATCTCAGCCAAATGGAAGCAC
  TGAAAAGGCACAGGCAGGCGGAGGCGGAGGGCGAGGGCTGGGAGTACGCCTCTCTTTTTGGCTGGAAGTT
  CCACCTCGAGTACCGCAAGACAGATGCCTTCCGCCGCCGCCGCTGGCGCCGTCGCATGGAGCCACTGGAG
  AAGACGGGGCCTGCAGCTGTGTTTGCCCTTGAGGGGGCCCTGGGCGGCGTGATGGATGACAAGAGTGAAG
  ATTCCATGTCCGTCTCCACCTTGAGCTTCGGTGTGAACAGACCCACGATTTCCTGCATATTCGACTATGG
  GAACCGCTACCATCTACGCTGCTACATGTACCAGGCCCGGGACCTGGCTGCGATGGACAAGGACTCTTTT
  TCTGATCCCTATGCCATCGTCTCCTTCCTGCACCAGAGCCAGAAGACGGTGGTGGTGAAGAACACCCTTA
  ACCCCACCTGGGACCAGACGCTCATCTTCTACGAGATCGAGATCTTTGGCGAGCCGGCCACAGTTGCTGA
  GCAACCGCCCAGCATTGTGGTGGAGCTGTACGACCATGACACTTATGGTGCAGACGAGTTTATGGGTCGC
  TGCATCTGTCAACCGAGTCTGGAACGGATGCCACGGCTGGCCTGGTTCCCACTGACGAGGGGCAGCCAGC
  CGTCGGGGGAGCTGCTGGCCTCTTTTGAGCTCATCCAGAGAGAGAAGCCGGCCATCCACCATATTCCTGG
  TTTTGAGGTGCAGGAGACATCAAGGATCCTGGATGAGTCTGAGGACACAGACCTGCCCTACCCACCACCC
  CAGAGGGAGGCCAACATCTACATGGTTCCTCAGAACATCAAGCCAGCGCTCCAGCGTACCGCCATCGAGA
  TCCTGGCATGGGGCCTGCGGAACATGAAGAGTTACCAGCTGGCCAACATCTCCTCCCCCAGCCTCGTGGT
  AGAGTGTGGGGGCCAGACGGTGCAGTCCTGTGTCATCAGGAACCTCCGGAAGAACCCCAACTTTGACATC
  TGCACCCTCTTCATGGAAGTGATGCTGCCCAGGGAGGAGCTCTACTGCCCCCCCATCACCGTCAAGGTCA
  TCGATAACCGCCAGTTTGGCCGCCGGCCTGTGGTGGGCCAGTGTACCATCCGCTCCCTGGAGAGCTTCCT
  GTGTGACCCCTACTCGGCGGAGAGTCCATCCCCACAGGGTGGCCCAGACGATGTGAGCCTACTCAGTCCT
  GGGGAAGACGTGCTCATCGACATTGATGACAAGGAGCCCCTCATCCCCATCCAGCTTGCAGACGGTCTGT
  CGAGCTTGGCCCCCACTAACACGGCTTCTCCTCCATCCAGTCCTCATGAGGAAGAGTTCATCGATTGGTG
  GAGCAAATTCTTTGCCTCCATAGGGGAGAGGGAAAAGTGCGGCTCCTACCTGGAGAAGGATTTTGACACC
  CTGAAGGTCTATGACACACAGCTGGAGAATGTGGAGGCCTTTGAGGGCCTGTCTGACTTTTGTAACACCT
  TCAAGCTGTACCGGGGCAAGACGCAGGAGGAGACAGAAGATCCATCTGTGATTGGTGAATTTAAGGGCCT
  CTTCAAAATTTATCCCCTCCCAGAAGACCCAGCCATCCCCATGCCCCCAAGACAGTTCCACCAGCTGGCC
  GCCCAGGGACCCCAGGAGTGCTTGGTCCGTATCTACATTGTCCGAGCATTTGGCCTGCAGCCCAAGGACC
  CCAATGGAAAGTGTGATCCTTACATCAAGATCTCCATAGGGAAGAAATCAGTGAGTGACCAGGATAACTA
  CATCCCCTGCACGCTGGAGCCCGTATTTGGAAAGATGTTCGAGCTGACCTGCACTCTGCCTCTGGAGAAG
  GACCTAAAGATCACTCTCTATGACTATGACCTCCTCTCCAAGGACGAAAAGATCGGTGAGACGGTCGTCG
  ACCTGGAGAACAGGCTGCTGTCCAAGTTTGGGGCTCGCTGTGGACTCCCACAGACCTACTGTGTCTCTGG
  ACCGAACCAGTGGCGGGACCAGCTCCGCCCCTCCCAGCTCCTCCACCTCTTCTGCCAGCAGCATAGAGTC
  AAGGCACCTGTGTACCGGACAGACCGTGTAATGTTTCAGGATAAAGAATATTCCATTGAAGAGATAGAGG
  CTGGCAGGATCCCAAACCCACACCTGGGCCCAGTGGAGGAGCGTCTGGCTCTGCATGTGCTTCAGCAGCA
  GGGCCTGGTCCCGGAGCACGTGGAGTCACGGCCCCTCTACAGCCCCCTGCAGCCAGACATCGAGCAGGGG
  AAGCTGCAGATGTGGGTCGACCTATTTCCGAAGGCCCTGGGGCGGCCTGGACCTCCCTTCAACATCACCC
  CACGGAGAGCCAGAAGGTTTTTCCTGCGTTGTATTATCTGGAATACCAGAGATGTGATCCTGGATGACCT
  GAGCCTCACGGGGGAGAAGATGAGCGACATTTATGTGAAAGGTTGGATGATTGGCTTTGAAGAACACAAG
  CAAAAGACAGACGTGCATTATCGTTCCCTGGGAGGTGAAGGCAACTTCAACTGGAGGTTCATTTTCCCCT
  TCGACTACCTGCCAGCTGAGCAAGTCTGTACCATTGCCAAGAAGGATGCCTTCTGGAGGCTGGACAAGAC
  TGAGAGCAAAATCCCAGCACGAGTGGTGTTCCAGATCTGGGACAATGACAAGTTCTCCTTTGATGATTTT
  CTGGGCTCCCTGCAGCTCGATCTCAACCGCATGCCCAAGCCAGCCAAGACAGCCAAGAAGTGCTCCTTGG
  ACCAGCTGGATGATGCTTTCCACCCAGAATGGTTTGTGTCCCTTTTTGAGCAGAAAACAGTGAAGGGCTG
  GTGGCCCTGTGTAGCAGAAGAGGGTGAGAAGAAAATACTGGCGGGCAAGCTGGAAATGACCTTGGAGATT
  GTAGCAGAGAGTGAGCATGAGGAGCGGCCTGCTGGCCAGGGCCGGGATGAGCCCAACATGAACCCTAAGC
  TTGAGGACCCAAGGCGCCCCGACACCTCCTTCCTGTGGTTTACCTCCCCATACAAGACCATGAAGTTCAT
  CCTGTGGCGGCGTTTCCGGTGGGCCATCATCCTCTTCATCATCCTCTTCATCCTGCTGCTGTTCCTGGCC
  ATCTTCATCTACGCCTTCCCGAACTATGCTGCCATGAAGCTGGTGAAGCCCTTCAGCTGA
  
  
• Restriction Sites: SgfI-MluI
• ACCN: NM_001130987
• ORF Size: 6360 bp
• 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).
• OTI Annotation: This TrueClone is provided through our Custom Cloning Process that includes sub-cloning into OriGene's pCMV6 vector and full sequencing to provide a non-variant match to the expected reference without frameshifts, and is delivered as lyophilized plasmid DNA.

Reference Data

• RefSeq: NM_001130987.1, NP_001124459.1
• RefSeq Size: 6772
• RefSeq ORF: 6360
• Locus ID: 8291
• Protein Families: Transmembrane
• Gene Summary: The protein encoded by this gene belongs to the ferlin family and is a skeletal muscle protein found associated with the sarcolemma. It is involved in muscle contraction and contains C2 domains that play a role in calcium-mediated membrane fusion events, suggesting that it may be involved in membrane regeneration and repair. In addition, the protein encoded by this gene binds caveolin-3, a skeletal muscle membrane protein which is important in the formation of caveolae. Specific mutations in this gene have been shown to cause autosomal recessive limb girdle muscular dystrophy type 2B (LGMD2B) as well as Miyoshi myopathy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2008]
  Transcript Variant: This variant (1) encodes the longest isoform (1).