PDHX (NM_001135024) Human Untagged Clone

CAT#: SC325983

PDHX (untagged)-Human pyruvate dehydrogenase complex, component X (PDHX), transcript variant 2

Specifications

Product Data

• Type: Human Untagged Clone
• Tag: Tag Free
• Symbol: PDHX
• Synonyms: DLDBP; E3BP; OPDX; PDHXD; PDX1; proX
• Vector: pCMV6-Entry
• E. coli Selection: Kanamycin (25 ug/mL)
• Mammalian Cell Selection: Neomycin
• Sequence Data:
  Fully Sequenced ORF

  >NCBI ORF sequence for NM_001135024, the custom clone sequence may differ by one or more nucleotides
  
  
  ATGCAATCAGGCGGCGCTGAGGGCAGCCCGGGGGCGGGGCGAACGGGGCGGGGGCCGGGGTCTGGTAAGG
  CCCCGCCGGCTGAGATATCCAGCGGCGCACCTGACTTCCCGGGAGGTGATCCCATTAAGATACTAATGCC
  ATCACTGTCTCCTACAATGGAAGAAGGAAACATTGTGAAATGGCTGAAAAAGGAAGGTGAAGCGGTGAGT
  GCTGGAGATGCATTATGTGAAATTGAGACTGACAAAGCTGTGGTTACCTTAGATGCAAGTGATGATGGAA
  TCTTGGCCAAAATCGTGGTTGAAGAAGGAAGTAAAAATATACGGCTAGGTTCACTAATTGGTTTGATAGT
  AGAAGAAGGAGAAGATTGGAAACATGTTGAAATTCCCAAAGACGTAGGTCCTCCACCACCAGTTTCAAAA
  CCTTCAGAGCCTCGCCCCTCACCAGAACCACAGATTTCCATCCCTGTCAAGAAGGAACACATACCCGGGA
  CACTACGGTTCCGTTTAAGTCCAGCTGCCCGCAATATTCTGGAAAAACACTCACTGGATGCTAGCCAGGG
  CACAGCCACTGGCCCTCGGGGGATATTCACTAAAGAGGATGCTCTCAAACTTGTCCAGTTGAAACAAACG
  GGCAAGATTACCGAGTCCAGACCAACTCCAGCCCCCACAGCCACTCCCACAGCACCTTCGCCCCTACAGG
  CCACAGCTGGACCATCTTATCCCCGGCCTGTGATCCCACCAGTATCAACTCCTGGACAACCCAATGCAGT
  GGGCACATTCACTGAAATCCCCGCCAGCAATATTCGAAGAGTTATTGCCAAGAGATTAACTGAATCTAAA
  AGTACTGTACCTCATGCATATGCTACTGCTGACTGTGACCTTGGAGCTGTTTTAAAAGTTAGGCAAGATC
  TGGTCAAAGATGACATTAAAGTATCAGTAAATGATTTTATCATCAAGGCAGCAGCTGTTACCCTTAAACA
  AATGCCAGATGTTAATGTAAGCTGGGATGGAGAGGGCCCAAAGCAACTGCCATTTATTGACATTTCAGTG
  GCTGTGGCAACAGATAAAGGCTTACTTACTCCAATCATAAAAGATGCTGCTGCTAAAGGTATCCAGGAAA
  TTGCTGACTCTGTAAAGGCTCTATCAAAGAAAGCAAGAGATGGAAAATTGTTGCCTGAAGAATACCAAGG
  AGGATCTTTTAGTATTTCCAACTTGGGGATGTTTGGCATCGACGAATTTACTGCAGTGATTAACCCTCCT
  CAGGCCTGCATTTTGGCGGTTGGGAGGTTCCGACCTGTGCTGAAGCTCACTGAGGATGAAGAGGGAAATG
  CCAAACTGCAGCAGCGCCAGCTCATAACAGTCACAATGTCAAGTGACAGTCGAGTGGTTGATGACGAACT
  GGCAACCAGGTTTCTTAAAAGTTTTAAAGCAAACCTAGAGAATCCTATCCGACTTGCCTAG
  
  
• Restriction Sites: SgfI-MluI
• ACCN: NM_001135024
• ORF Size: 1461 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_001135024.1, NP_001128496.1
• RefSeq Size: 2662
• RefSeq ORF: 1461
• Locus ID: 8050
• Gene Summary: The pyruvate dehydrogenase (PDH) complex is located in the mitochondrial matrix and catalyzes the conversion of pyruvate to acetyl coenzyme A. The PDH complex thereby links glycolysis to Krebs cycle. The PDH complex contains three catalytic subunits, E1, E2, and E3, two regulatory subunits, E1 kinase and E1 phosphatase, and a non-catalytic subunit, E3 binding protein (E3BP). This gene encodes the E3 binding protein subunit; also known as component X of the pyruvate dehydrogenase complex. This protein tethers E3 dimers to the E2 core of the PDH complex. Defects in this gene are a cause of pyruvate dehydrogenase deficiency which results in neurological dysfunction and lactic acidosis in infancy and early childhood. This protein is also a minor antigen for antimitochondrial antibodies. These autoantibodies are present in nearly 95% of patients with the autoimmune liver disease primary biliary cirrhosis (PBC). In PBC, activated T lymphocytes attack and destroy epithelial cells in the bile duct where this protein is abnormally distributed and overexpressed. PBC eventually leads to cirrhosis and liver failure. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Oct 2009]
  Transcript Variant: This variant (2) lacks a segment in the 5' region, resulting in upstream in-frame AUG start codon, as compared to variant 1. The resulting isoform (2) has a shorter and distinct N-terminus, as compared to isoform 1.