MLH1 (NM_000249) Human Mutant ORF Clone
CAT#: RC401603
- TrueORF®
MLH1 Mutant (K461X), 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
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CNY 3,656.00
CNY 7,220.00
货期*
现货
规格
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Specifications
Product Data | |
Product Name | MLH1 (NM_000249) Human Mutant ORF Clone |
Mutation Description | K461X |
Affected Codon# | 461 |
Affected NT# | 1381 |
Nucleotide Mutation | MLH1 Mutant (K461X), 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 |
Effect | Colorel ner, non-polyposis |
Synonyms | COCA2; FCC2; hMLH1; HNPCC; HNPCC2; MMRCS1 |
Vector | pCMV6-Entry |
Tag | Myc-DDK |
ACCN | NM_000249 |
ORF Size | 1380 bp |
Restriction Sites | SgfI-MluI Cloning Scheme for this gene |
OTI Disclaimer | 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. |
Reference Data | |
RefSeq | NP_000240 |
RefSeq Size | 1380 bp |
RefSeq ORF | 2271 bp |
Locus ID | 4292 |
Domains | DNA_mis_repair, HATPase_c |
Protein Families | Druggable Genome |
Protein Pathways | Colorectal cancer, Endometrial cancer, Mismatch repair, Pathways in cancer |
MW | 50.6 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] |
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