Dysferlin (DYSF) (NM_001130981) Human Untagged Clone

CAT#: SC326435

DYSF (untagged)-Human dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 14

Specifications

Product Data

• Type: Human Untagged Clone
• Tag: Tag Free
• Symbol: DYSF
• Synonyms: FER1L1; LGMD2B; LGMDR2; MMD1
• Vector: pCMV6 series
• Sequence Data:
  Fully Sequenced ORF

  >NCBI ORF sequence for NM_001130981, the custom clone sequence may differ by one or more nucleotides
  ATGCTGAGGGTCTTCATCCTCTATGCCGAGAACGTCCACACACCCGACACCGACATCAGC
  GATGCCTACTGCTCCGCGGTGTTTGCAGGGGTGAAGAAGAGAACCAAAGTCATCAAGAAC
  AGCGTGAACCCTGTATGGAATGAGGGATTTGAATGGGACCTCAAGGGCATCCCCCTGGAC
  CAGGGCTCTGAGCTTCATGTGGTGGTCAAAGACCATGAGACGATGGGGAGGAACAGGTTC
  CTGGGGGAAGCCAAGGTCCCACTCCGAGAGGTCCTCGCCACCCCTAGTCTGTCCGCCAGC
  TTCAATGCCCCCCTGCTGGACACCAAGAAGCAGCCCACAGGGGCCTCGCTGGTCCTGCAG
  GTGTCCTACACACCGCTGCCTGGAGCTGTGCCCCTGTTCCCGCCCCCTACTCCTCTGGAG
  CCCTCCCCGACTCTGCCTGACCTGGATGTAGTGGCAGGCGGGGGACAGAGCCGGGCCGAG
  ACTTGGTCCCTGCTCAGTGACAGCACCATGGACACGAGATACTCTGGAAAGAAGTGGCCG
  GCCCCCACGGACACAGGAGGAGAGGAAGACACAGAGGACCAGGGACTCACTGGAGATGAG
  GCGGAGCCATTCCTGGATCAAAGCGGAGGCCCGGGGGCTCCCACCACCCCAAGGAAACTA
  CCTTCACGTCCTCCGCCCCACTACCCCGGGATCAAAAGAAAGCGAAGTGCGCCTACATCT
  AGAAAGCTGCTGTCAGACAAACCGCAGGATTTCCAGATCAGGGTCCAGGTGATCGAGGGG
  CGCCAGCTGCCGGGGGTGAACATCAAGCCTGTGGTCAAGGTTACCGCTGCAGGGCAGACC
  AAGCGGACGCGGATCCACAAGGGAAACAGCCCACTCTTCAATGAGACTCTTTTCTTCAAC
  TTGTTTGACTCTCCTGGGGAGCTGTTTGATGAGCCCATCTTTATCACGGTGGTAGACTCT
  CGTTCTCTCAGGACAGATGCTCTCCTCGGGGAGTTCCGGATGGACGTGGGCACCATTTAC
  AGAGAGCCCCGGCACGCCTATCTCAGGAAGTGGCTGCTGCTCTCAGACCCTGATGACTTC
  TCTGCTGGGGCCAGAGGCTACCTGAAAACAAGCCTTTGTGTGCTGGGGCCTGGGGACGAA
  GCGCCTCTGGAGAGAAAAGACCCCTCTGAAGACAAGGAGGACATTGAAAGCAACCTGCTC
  CGGCCCACAGGCGTAGCCCTGCGAGGAGCCCACTTCTGCCTGAAGGTCTTCCGGGCCGAG
  GACTTGCCGCAGATGGACGATGCCGTGATGGACAACGTGAAACAGATCTTTGGCTTCGAG
  AGTAACAAGAAGAACTTGGTGGACCCCTTTGTGGAGGTCAGCTTTGCGGGGAAAATGCTG
  TGCAGCAAGATCTTGGAGAAGACGGCCAACCCTCAGTGGAACCAGAACATCACACTGCCT
  GCCATGTTTCCCTCCATGTGCGAAAAAATGAGGATTCGTATCATAGACTGGGACCGCCTG
  ACTCACAATGACATCGTGGCTACCACCTACCTGAGTATGTCGAAAATCTCTGCCCCTGGA
  GGAGAAATAGAAGTGGATGACTACCTGGGCTTCCTCCCCACTTTTGGGCCCTGCTACATC
  AACCTCTATGGCAGTCCCAGAGAGTTCACAGGCTTCCCAGACCCCTACACAGAGCTCAAC
  ACAGGCAAGGGGGAAGGTGTGGCTTATCGTGGCCGGCTTCTGCTCTCCCTGGAGACCAAG
  CTGGTGGAGCACAGTGAACAGAAGGTGGAGGACCTTCCTGCGGATGACATCCTCCGGGTG
  GAGAAGTACCTTAGGAGGCGCAAGTACTCCCTGTTTGCGGCCTTCTACTCAGCCACCATG
  CTGCAGGATGTGGATGATGCCATCCAGTTTGAGGTCAGCATCGGGAACTACGGGAACAAG
  TTCGACATGACCTGCCTGCCGCTGGCCTCCACCACTCAGTACAGCCGTGCAGTCTTTGAC
  GGGTGCCACTACTACTACCTACCCTGGGGTAACGTGAAACCTGTGGTGGTGCTGTCATCC
  TACTGGGAGGACATCAGCCATAGAATCGAGACTCAGAACCAGCTGCTTGGGATTGCTGAC
  CGGCTGGAAGCTGGCCTGGAGCAGGTCCACCTGGCCCTGAAGGCGCAGTGCTCCACGGAG
  GACGTGGACTCGCTGGTGGCTCAGCTGACGGATGAGCTCATCGCAGGCTGCAGCCAGCCT
  CTGGGTGACATCCATGAGACACCCTCTGCCACCCACCTGGACCAGTACCTGTACCAGCTG
  CGCACCCATCACCTGAGCCAAATCACTGAGGCTGCCCTGGCCCTGAAGCTCGGCCACAGT
  GAGCTCCCTGCAGCTCTGGAGCAGGCGGAGGACTGGCTCCTGCGTCTGCGTGCCCTGGCA
  GAGGAGCCCCAGAACAGCCTGCCGGACATCGTCATCTGGATGCTGCAGGGAGACAAGCGT
  GTGGCATACCAGCGGGTGCCCGCCCACCAAGTCCTCTTCTCCCGGCGGGGTGCCAACTAC
  TGTGGCAAGAATTGTGGGAAGCTACAGACAATCTTTCTGAAATATCCGATGGAGAAGGTG
  CCTGGCGCCCGGATGCCAGTGCAGATACGGGTCAAGCTGTGGTTTGGGCTCTCAGTGGAT
  GAGAAGGAGTTCAACCAGTTTGCTGAGGGGAAGCTGTCTGTCTTTGCTGAAACCTATGAG
  AACGAGACTAAGTTGGCCCTTGTTGGGAACTGGGGCACAACGGGCCTCACCTACCCCAAG
  TTTTCTGACGTCACGGGCAAGATCAAGCTACCCAAGGACAGCTTCCGCCCCTCGGCCGGC
  TGGACCTGGGCTGGAGATTGGTTCGTGTGTCCGGAGAAGACTCTGCTCCATGACATGGAC
  GCCGGTCACCTGAGCTTCGTGGAAGAGGTGTTTGAGAACCAGACCCGGCTTCCCGGAGGC
  CAGTGGATCTACATGAGTGACAACTACACCGATGTGAACGGGGAGAAGGTGCTTCCCAAG
  GATGACATTGAGTGCCCACTGGGCTGGAAGTGGGAAGATGAGGAATGGTCCACAGACCTC
  AACCGGGCTGTCGATGAGCAAGGCTGGGAGTATAGCATCACCATCCCCCCGGAGCGGAAG
  CCGAAGCACTGGGTCCCTGCTGAGAAGATGTACTACACACACCGACGGCGGCGCTGGGTG
  CGCCTGCGCAGGAGGGATCTCAGCCAAATGGAAGCACTGAAAAGGCACAGGCAGGCGGAG
  GCGGAGGGCGAGGGCTGGGAGTACGCCTCTCTTTTTGGCTGGAAGTTCCACCTCGAGTAC
  CGCAAGACAGATGCCTTCCGCCGCCGCCGCTGGCGCCGTCGCATGGAGCCACTGGAGAAG
  ACGGGGCCTGCAGCTGTGTTTGCCCTTGAGGGGGCCCTGGGCGGCGTGATGGATGACAAG
  AGTGAAGATTCCATGTCCGTCTCCACCTTGAGCTTCGGTGTGAACAGACCCACGATTTCC
  TGCATATTCGACTATGGGAACCGCTACCATCTACGCTGCTACATGTACCAGGCCCGGGAC
  CTGGCTGCGATGGACAAGGACTCTTTTTCTGATCCCTATGCCATCGTCTCCTTCCTGCAC
  CAGAGCCAGAAGACGGTGGTGGTGAAGAACACCCTTAACCCCACCTGGGACCAGACGCTC
  ATCTTCTACGAGATCGAGATCTTTGGCGAGCCGGCCACAGTTGCTGAGCAACCGCCCAGC
  ATTGTGGTGGAGCTGTACGACCATGACACTTATGGTGCAGACGAGTTTATGGGTCGCTGC
  ATCTGTCAACCGAGTCTGGAACGGATGCCACGGCTGGCCTGGTTCCCACTGACGAGGGGC
  AGCCAGCCGTCGGGGGAGCTGCTGGCCTCTTTTGAGCTCATCCAGAGAGAGAAGCCGGCC
  ATCCACCATATTCCTGGTTTTGAGGTGCAGGAGACATCAAGGATCCTGGATGAGTCTGAG
  GACACAGACCTGCCCTACCCACCACCCCAGAGGGAGGCCAACATCTACATGGTTCCTCAG
  AACATCAAGCCAGCGCTCCAGCGTACCGCCATCGAGATCCTGGCATGGGGCCTGCGGAAC
  ATGAAGAGTTACCAGCTGGCCAACATCTCCTCCCCCAGCCTCGTGGTAGAGTGTGGGGGC
  CAGACGGTGCAGTCCTGTGTCATCAGGAACCTCCGGAAGAACCCCAACTTTGACATCTGC
  ACCCTCTTCATGGAAGTGATGCTGCCCAGGGAGGAGCTCTACTGCCCCCCCATCACCGTC
  AAGGTCATCGATAACCGCCAGTTTGGCCGCCGGCCTGTGGTGGGCCAGTGTACCATCCGC
  TCCCTGGAGAGCTTCCTGTGTGACCCCTACTCGGCGGAGAGTCCATCCCCACAGGGTGGC
  CCAGACGATGTGAGCCTACTCAGTCCTGGGGAAGACGTGCTCATCGACATTGATGACAAG
  GAGCCCCTCATCCCCATCCAGCTTGCAGACGGTCTGTCGAGCTTGGCCCCCACTAACACG
  GCTTCTCCTCCATCCAGTCCTCATGAGGAAGAGTTCATCGATTGGTGGAGCAAATTCTTT
  GCCTCCATAGGGGAGAGGGAAAAGTGCGGCTCCTACCTGGAGAAGGATTTTGACACCCTG
  AAGGTCTATGACACACAGCTGGAGAATGTGGAGGCCTTTGAGGGCCTGTCTGACTTTTGT
  AACACCTTCAAGCTGTACCGGGGCAAGACGCAGGAGGAGACAGAAGATCCATCTGTGATT
  GGTGAATTTAAGGGCCTCTTCAAAATTTATCCCCTCCCAGAAGACCCAGCCATCCCCATG
  CCCCCAAGACAGTTCCACCAGCTGGCCGCCCAGGGACCCCAGGAGTGCTTGGTCCGTATC
  TACATTGTCCGAGCATTTGGCCTGCAGCCCAAGGACCCCAATGGAAAGTGTGATCCTTAC
  ATCAAGATCTCCATAGGGAAGAAATCAGTGAGTGACCAGGATAACTACATCCCCTGCACG
  CTGGAGCCCGTATTTGGAAAGATGTTCGAGCTGACCTGCACTCTGCCTCTGGAGAAGGAC
  CTAAAGATCACTCTCTATGACTATGACCTCCTCTCCAAGGACGAAAAGATCGGTGAGACG
  GTCGTCGACCTGGAGAACAGGCTGCTGTCCAAGTTTGGGGCTCGCTGTGGACTCCCACAG
  ACCTACTGTGTCTCTGGACCGAACCAGTGGCGGGACCAGCTCCGCCCCTCCCAGCTCCTC
  CACCTCTTCTGCCAGCAGCATAGAGTCAAGGCACCTGTGTACCGGACAGACCGTGTAATG
  TTTCAGGATAAAGAATATTCCATTGAAGAGATAGAGGCTGGCAGGATCCCAAACCCACAC
  CTGGGCCCAGTGGAGGAGCGTCTGGCTCTGCATGTGCTTCAGCAGCAGGGCCTGGTCCCG
  GAGCACGTGGAGTCACGGCCCCTCTACAGCCCCCTGCAGCCAGACATCGAGCAGGGGAAG
  CTGCAGATGTGGGTCGACCTATTTCCGAAGGCCCTGGGGCGGCCTGGACCTCCCTTCAAC
  ATCACCCCACGGAGAGCCAGAAGGTTTTTCCTGCGTTGTATTATCTGGAATACCAGAGAT
  GTGATCCTGGATGACCTGAGCCTCACGGGGGAGAAGATGAGCGACATTTATGTGAAAGGT
  TGGATGATTGGCTTTGAAGAACACAAGCAAAAGACAGACGTGCATTATCGTTCCCTGGGA
  GGTGAAGGCAACTTCAACTGGAGGTTCATTTTCCCCTTCGACTACCTGCCAGCTGAGCAA
  GTCTGTACCATTGCCAAGAAGGATGCCTTCTGGAGGCTGGACAAGACTGAGAGCAAAATC
  CCAGCACGAGTGGTGTTCCAGATCTGGGACAATGACAAGTTCTCCTTTGATGATTTTCTG
  GGCTCCCTGCAGCTCGATCTCAACCGCATGCCCAAGCCAGCCAAGACAGCCAAGAAGTGC
  TCCTTGGACCAGCTGGATGATGCTTTCCACCCAGAATGGTTTGTGTCCCTTTTTGAGCAG
  AAAACAGTGAAGGGCTGGTGGCCCTGTGTAGCAGAAGAGGGTGAGAAGAAAATACTGGCG
  GGCAAGCTGGAAATGACCTTGGAGATTGTAGCAGAGAGTGAGCATGAGGAGCGGCCTGCT
  GGCCAGGGCCGGGATGAGCCCAACATGAACCCTAAGCTTGAGGACCCAAGGCGCCCCGAC
  ACCTCCTTCCTGTGGTTTACCTCCCCATACAAGACCATGAAGTTCATCCTGTGGCGGCGT
  TTCCGGTGGGCCATCATCCTCTTCATCATCCTCTTCATCCTGCTGCTGTTCCTGGCCATC
  TTCATCTACGCCTTCCCGAACTATGCTGCCATGAAGCTGGTGAAGCCCTTCAGC
  
• Restriction Sites: Please inquire
• ACCN: NM_001130981
• ORF Size: 6357 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_001130981.1, NP_001124453.1
• RefSeq Size: 7004
• RefSeq ORF: 6357
• 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 (14) differs in the 5' UTR and has multiple coding region differences, compared to variant 1. These differences cause translation initiation at an upstream AUG and a shorter isoform (14) with an alternate N-terminus compared to isoform 1.