BCKDHB (NM_000056) Human Untagged Clone

CAT#: SC108972

BCKDHB (untagged)-Human branched chain keto acid dehydrogenase E1, beta polypeptide (BCKDHB), nuclear gene encoding mitochondrial protein, transcript variant 2

Specifications

Product Data

• Type: Human Untagged Clone
• Tag: Tag Free
• Symbol: BCKDHB
• Synonyms: BCKDE1B; BCKDH E1-beta; E1B
• Vector: pCMV6-XL5
• E. coli Selection: Ampicillin (100 ug/mL)
• Mammalian Cell Selection: None
• Sequence Data:
  Fully Sequenced ORF

  >NCBI ORF sequence for NM_000056, the custom clone sequence may differ by one or more nucleotides
  
  
  ATGGCGGTTGTAGCGGCGGCTGCCGGCTGGCTACTCAGGCTCAGGGCGGCAGGGGCTGAGGGGCACTGGC
  GTCGGCTTCCTGGCGCGGGGCTGGCGCGGGGCTTTTTGCACCCCGCCGCGACTGTCGAGGATGCGGCCCA
  GAGGCGGCAGGTGGCTCATTTTACTTTCCAGCCAGATCCGGAGCCCCGGGAGTACGGGCAAACTCAGAAA
  ATGAATCTTTTCCAGTCTGTAACAAGTGCCTTGGATAACTCATTGGCCAAAGATCCTACTGCAGTAATAT
  TTGGTGAAGATGTTGCCTTTGGTGGAGTCTTTAGATGCACTGTTGGCTTGCGAGACAAATATGGAAAAGA
  TAGAGTTTTTAATACCCCATTGTGTGAACAAGGAATTGTTGGATTTGGAATCGGAATTGCGGTCACTGGA
  GCTACTGCCATTGCGGAAATTCAGTTTGCAGATTATATTTTCCCTGCATTTGATCAGATTGTTAATGAAG
  CTGCCAAGTATCGCTATCGCTCTGGGGATCTTTTTAACTGTGGAAGCCTCACTATCCGGTCCCCTTGGGG
  CTGTGTTGGTCATGGGGCTCTCTATCATTCTCAGAGTCCTGAAGCATTTTTTGCCCATTGCCCAGGAATC
  AAGGTGGTTATACCCAGAAGCCCTTTCCAGGCCAAAGGACTTCTTTTGTCATGCATAGAGGATAAAAATC
  CTTGTATATTTTTTGAACCTAAAATACTTTACAGGGCAGCAGCGGAAGAAGTCCCTATAGAACCATACAA
  CATCCCACTGTCCCAGGCCGAAGTCATACAGGAAGGGAGTGATGTTACTCTAGTTGCCTGGGGCACTCAG
  GTTCATGTGATCCGAGAGGTAGCTTCCATGGCAAAAGAAAAGCTTGGAGTGTCTTGTGAAGTCATTGATC
  TGAGGACTATAATACCTTGGGATGTGGACACAATTTGTAAGTCTGTGATCAAAACAGGGCGACTGCTAAT
  CAGTCACGAGGCTCCCTTGACAGGCGGCTTTGCATCGGAAATCAGCTCTACAGTTCAGGAGGAATGTTTC
  TTGAACCTAGAGGCTCCTATATCAAGAGTATGTGGTTATGACACACCATTTCCTCACATTTTTGAACCAT
  TCTACATCCCAGACAAATGGAAGTGTTATGATGCCCTTCGAAAAATGATCAACTATTGA
  
  
  5' Read Nucleotide Sequence

  >OriGene 5' read for NM_000056 unedited
  ATTTTGTAAACCGACTTTCTATAGGCGGCCGCGCATTCGGCACGAGGGCGGGGATGGCGG
  TTGTAGCGGCGGCTGCCGGCTGGCTACTCAGGCTCAGGGCGGCAGGGGCTGAGGGGCACT
  GGCGTCGGCTTCCTGGCGCGGGGCTGGCGCGGGGCTTTTTGCACCCCGCCGCGACTGTCG
  AGGATGCGGCCCAGAGGCGGCAGGGCAAACTCAGAAAATGAATCTTTTCCAGTCTGTAAC
  AAGTGCCTTGGATAACTCATTGGCCAAAGATCCTACTGCAGTAATATTTGGTGAAGATGT
  TGCCTTTGGTGGAGTCTTTAGATGCACTGTTGGCTTGCGAGACAAATATGGAAAAGATAG
  AGTTTTTAATACCCCATTGTGTGAACAAGGAATTGTTGGATTTGGAATCGGAATTGCGGT
  CACTGGAGCTACTGCCATTGCGGAAATTCAGTTTGCAGATTATATTTTCCCTGCATTTGA
  TCAGATTGTTAATGAAGCTGCCAAGTATCGCTATCGCTCTGGGGATCTTTTTAACTGTGG
  AAGCCTCACTATCCGGTCCCCTTGGGGCTGTGTTGGTCATGGGGCTCTCTATCATTCTCA
  GAGTCCTGAAGCATTTTTTGCCCATTGCCCAGGAATCAAGGTGGTTATACCCAGAAGCCC
  TTTCNCAGCCAAAGGACTTCTTTTGTCATGCATAGAGGATAAAAATCCTTGTATATTTTT
  TGGACCTAANATACTTTACAGGGCAGCAGCGGAAAGAGTNCCTATAGAACCATACAACAT
  CCCACTGTCCCAGNCCGAAGTCATACAGGAAGGGAGTGATGNNTACTCTAGTGCCTGGGG
  GCACTCAGNTCATGTGATCCGAGAGGTAGCTTCCATGGCANAAGAAAGCTNGGAGTGTC
  
  3' Read Nucleotide Sequence

  >OriGene 3' read for NM_000056 unedited
  CGGGCCGCAATCTAGNATCGAGTTTTTTTTTTTTTTTTGACAATTTGATTTTACTTTATT
  GAATACTATCACACACATAATATTTACAGATGTAATTAAACAGAATTTATAAGATTACCA
  TGTGGAATATTTTTCAAAGTTAATCTGAAACTCTTAATGAAAATCATCAATACATGTGTG
  TTACAATACAATAATAGAATGTAGAACTTTTCAGCCAATATCATGATGGTTCATTTAATA
  AAAACTCTCTTTTCAAAAAGAGGTAAGTCGGAGGAAATATAAAAAAAAATTCAGAAAAAA
  TATTTCCATATCTAGTCATAATCTTCCAGCTTTTCTGTAAAATAAATTATAGACTTTCTC
  AATTGCATACATGACTATTTTCTTAAATACCATATTTAACTTTTAGCATATTGGAGTTGT
  TTTTCTTTTATCGTATTTTCAGCATAGGTTTAAATGTTTTTCTTATGTTTCAAAAGGAAT
  ACATAATCTAAATTTAAAACCACATCTGAATATTACTTTAAAAATAGCAACGAGGCACGT
  GGCCACCATCACTACCTTGGCTCTTTATTACGGCTGGTCCACGGAAGGGAACCACATGGA
  CAACAAAAGTGAGGGAGTCCTCTAACCAGTTCTAAGTGTGATTTATTGTAGATGCCAGTT
  GCTTTCACAGACATTAAGAAGACATCAGANATATGGCATCTACACCGGTATGTCTGAGAG
  ATACACGCATCTGTGGGCTAATGGTCCTAACTTCCATCTATAACANTATTCTTAGACTAG
  AACAGACAGAAATGTNAGGATTATGTAGCACAGTGACTATGAGGGAGAGACTACTCTCTA
  TCCGACAATGTAAAGGCGTTCACTCTGATTTCAGGAGCTAGATTACTACCATACACAAGT
  CAGAATCTAGCTTTCTGACTTTAAAGNNAAGATGTGCTTTTTCAGAGTGATTTGCT
  
• Restriction Sites: NotI-NotI
• ACCN: NM_000056
• Insert Size: 3340 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).
• Product Components: The ORF clone is ion-exchange column purified and shipped in a 2D barcoded Matrix tube containing 10ug of transfection-ready, dried plasmid DNA (reconstitute with 100 ul of water).
• Reconstitution: 1. Centrifuge at 5,000xg for 5min.
  2. Carefully open the tube and add 100ul of sterile water to dissolve the DNA.
  3. Close the tube and incubate for 10 minutes at room temperature.
  4. Briefly vortex the tube and then do a quick spin (less than 5000xg) to concentrate the liquid at the bottom.
  5. Store the suspended plasmid at -20°C. The DNA is stable for at least one year from date of shipping when stored at -20°C.

Reference Data

• RefSeq: NM_000056.2, NP_000047.1
• RefSeq Size: 1552 bp
• RefSeq ORF: 1179 bp
• Locus ID: 594
• UniProt ID: P21953
• Cytogenetics: 6q14.1
• Domains: transket_pyr, transketolase_C
• Protein Pathways: Metabolic pathways, Valine, leucine and isoleucine degradation
• Gene Summary: This gene encodes the E1 beta subunit of branched-chain keto acid dehydrogenase, which is a multienzyme complex associated with the inner membrane of mitochondria. This enzyme complex functions in the catabolism of branched-chain amino acids. Mutations in this gene have been associated with maple syrup urine disease (MSUD), type 1B, a disease characterized by a maple syrup odor to the urine in addition to mental and physical retardation and feeding problems. Alternative splicing at this locus results in multiple transcript variants. [provided by RefSeq, Jan 2016]
  Transcript Variant: This variant (2) lacks an alternate segment in the 3' UTR compared to transcript variant 1. Both variants 1 and 2 encode the same protein (isoform 1).