MLH1 (NM_000249) Human Mutant ORF Clone

CAT#: RC401512

MLH1 Mutant (E102D), Myc-DDK-tagged ORF clone of Homo sapiens mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli) (MLH1), transcript variant 1 as transfection-ready DNA

Specifications

Product Data

• Mutation Description: E102D
• Affected Codon#: 102
• Affected NT#: 306
• Tag: Myc-DDK
• Effect: Colorel ner
• Symbol: MLH1
• Synonyms: COCA2; FCC2; hMLH1; HNPCC; HNPCC2; MMRCS1
• E. coli Selection: Kanamycin (25 ug/mL)
• Mammalian Cell Selection: Neomycin
• Vector: pCMV6-Entry
• ACCN: NM_000249
• ORF Size: 2268 bp
• Restriction Sites: SgfI-MluI Cloning Scheme for this gene
• OTI Disclaimer: Due to the inherent nature of this plasmid, standard methods to replicate additional amounts of DNA in E. coli are highly likely to result in mutations and/or rearrangements. Therefore, OriGene does not guarantee the capability to replicate this plasmid DNA. Additional amounts of DNA can be purchased from OriGene with batch-specific, full-sequence verification at a reduced cost. Please contact our customer care team at custsupport@origene.com or by calling 301.340.3188 option 3 for pricing and delivery.
  
  The molecular sequence of this clone aligns with the gene accession number as a point of reference only. However, individual transcript sequences of the same gene can differ through naturally occurring variations (e.g. polymorphisms), each with its own valid existence. This clone is substantially in agreement with the reference, but a complete review of all prevailing variants is recommended prior to use. More info
• OTI Annotation: This clone was engineered to express the complete ORF with an expression tag. Expression varies depending on the nature of the gene.
• 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).

Reference Data

• RefSeq: NP_000240
• RefSeq Size: 2268 bp
• RefSeq ORF: 2271 bp
• Locus ID: 4292
• Cytogenetics: 3p22.2
• Domains: DNA_mis_repair, HATPase_c
• Protein Families: Druggable Genome
• Protein Pathways: Colorectal cancer, Endometrial cancer, Mismatch repair, Pathways in cancer
• MW: 83.2 kDa
• Gene Summary: The protein encoded by this gene can heterodimerize with mismatch repair endonuclease PMS2 to form MutL alpha, part of the DNA mismatch repair system. When MutL alpha is bound by MutS beta and some accessory proteins, the PMS2 subunit of MutL alpha introduces a single-strand break near DNA mismatches, providing an entry point for exonuclease degradation. The encoded protein is also involved in DNA damage signaling and can heterodimerize with DNA mismatch repair protein MLH3 to form MutL gamma, which is involved in meiosis. This gene was identified as a locus frequently mutated in hereditary nonpolyposis colon cancer (HNPCC). [provided by RefSeq, Aug 2017]