BSCL2 (NM_001130702) Human Untagged Clone

CAT#: SC325117

BSCL2 (untagged)-Human Berardinelli-Seip congenital lipodystrophy 2 (seipin) (BSCL2), transcript variant 3

Specifications

Product Data

• Type: Human Untagged Clone
• Tag: Tag Free
• Symbol: BSCL2
• Synonyms: GNG3LG; HMN5; PELD; SPG17
• Vector: pCMV6 series
• Sequence Data:
  Fully Sequenced ORF

  >NCBI ORF sequence for NM_001130702, the custom clone sequence may differ by one or more nucleotides
  ATGTCTACAGAAAAGGTAGACCAAAAGGAGGAAGCTGGGGAAAAAGAGGTGTGCGGAGAC
  CAGATCAAAGGACCGGACAAAGAGGAGGAACCACCAGCTGCTGCATCCCATGGCCAGGGG
  TGGCGTCCAGGTGGCAGAGCAGCTAGGAACGCAAGGCCTGAACCTGGGGCCAGACACCCT
  GCTCTCCCGGCCATGGTCAACGACCCTCCAGTACCTGCCTTACTGTGGGCCCAGGAGGTG
  GGCCAAGTCTTGGCAGGCCGTGCCCGCAGGCTGCTGCTGCAGTTTGGGGTGCTCTTCTGC
  ACCATCCTCCTTTTGCTCTGGGTGTCTGTCTTCCTCTATGGCTCCTTCTACTATTCCTAT
  ATGCCGACAGTCAGCCACCTCAGCCCTGTGCATTTCTACTACAGGACCGACTGTGATTCC
  TCCACCACCTCACTCTGCTCCTTCCCTGTTGCCAATGTCTCGCTGACTAAGGGTGGACGT
  GATCGGGTGCTGATGTATGGACAGCCGTATCGTGTTACCTTAGAGCTTGAGCTGCCAGAG
  TCCCCTGTGAATCAAGATTTGGGCATGTTCTTGGTCACCATTTCCTGCTACACCAGAGGT
  GGCCGAATCATCTCCACTTCTTCGCGTTCGGTGATGCTGCATTACCGCTCAGACCTGCTC
  CAGATGCTGGACACACTGGTCTTCTCTAGCCTCCTGCTATTTGGCTTTGCAGAGCAGAAG
  CAGCTGCTGGAGGTGGAACTCTACGCAGACTATAGAGAGAACTCGTACGTGCCGACCACT
  GGAGCGATCATTGAGATCCACAGCAAGCGCATCCAGCTGTATGGAGCCTACCTCCGCATC
  CACGCGCACTTCACTGGGCTCAGATACCTGCTATACAACTTCCCGATGACCTGCGCCTTC
  ATAGGTGTTGCCAGCAACTTCACCTTCCTCAGCGTCATCGTGCTCTTCAGCTACATGCAG
  TGGGTGTGGGGGGGCATCTGGCCCCGACACCGCTTCTCTTTGCAGGTTAACATCCGAAAA
  AGAGACAATTCCCGGAAGGAAGTCCAACGAAGGATCTCTGCTCATCAGCCAGGGCCTGAA
  GGCCAGGAGGAGTCAACTCCGCAATCAGATGTTACAGAGGATGGTGAGAGCCCTGAAGAT
  CCCTCAGGGACAGAGGGTCAGCTGTCCGAGGAGGAGAAACCAGATCAGCAGCCCCTGAGC
  GGAGAAGAGGAGCTAGAGCCTGAGGCCAGTGATGGTTCAGGCTCCTGGGAAGATGCAGCT
  TTGCTGACGGAGGCCAACCTGCCTGCTCCTGCTCCTGCTTCTGCTTCTGCCCCTGTCCTA
  GAGACTCTGGGCAGCTCTGAACCTGCTGGGGGTGCTCTCCGACAGCGCCCCACCTGCTCT
  AGTTCC
  
• Restriction Sites: Please inquire
• ACCN: NM_001130702
• ORF Size: 1389 bp
• Insert Size: 1378
• 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_001130702.1, NP_001124174.1
• RefSeq Size: 1378
• RefSeq ORF: 1389
• Locus ID: 26580
• Protein Families: Druggable Genome, Transmembrane
• Gene Summary: This gene encodes the multi-pass transmembrane protein protein seipin. This protein localizes to the endoplasmic reticulum and may be important for lipid droplet morphology. Mutations in this gene have been associated with congenital generalized lipodystrophy type 2 or Berardinelli-Seip syndrome, a rare autosomal recessive disease characterized by a near absence of adipose tissue and severe insulin resistance. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. Naturally occurring read-through transcription occurs between this locus and the neighboring locus HNRNPUL2 (heterogeneous nuclear ribonucleoprotein U-like 2). [provided by RefSeq, Mar 2011]
  Transcript Variant: This variant (3) has multiple differences, compared to variant 1, one of which results in a translational frameshift. The resulting protein (isoform 3) is shorter at the N-terminus and has a distinct C-terminus, compared to isoform 1.