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Homo
sapiens Official Gene Symbol and Name (HGNC) |
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MLH1: mutL (E. coli) homolog 1 (colon cancer,
nonpolyposis type 2) |
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LocusID: 4292 |
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RefSeq
Summary: MLH1 was identified as a locus frequently mutated
in hereditary nonpolyposis colon cancer (HNPCC). When cloned, it was
discovered to be a human homolog of the E. coli mismatch repair gene
mutS, consistent with the characteristic alterations in
microsatellite sequences (RER+ phenotype) found in HNPCC. |
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Proteome
Summary: MutL homolog 1, a mismatch repair protein |
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Locus Type: |
gene with protein product, function known
or inferred |
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Product: |
mutL homolog 1
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Alternate Symbols: |
COCA2, HNPCC, hMLH1, HNPCC2 |
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Alias: |
mutL (E. coli) homolog 1
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GeneRIF: Gene References into
Function: |
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11524701 |
- mutational analysis in HNPCC
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Mouse Homology Maps: |
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UCSC vs. MGD |
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9 62.00 cM |
Mlh1 |
Hs Mm |
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UCSC vs. Hudson et al. |
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9 16099.50 cR |
AI325952 |
Hs Mm |
| NCBI Reference
Sequences (RefSeq) |
? |
| Category: NCBI Genome
Annotation |
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Term