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MLH1 (NM_001258271) - mutL homolog 1

Dna Mismatch Repair Protein Mlh1 Isoform 4

PTM Interaction Network Visualisation

Protein summary

This is an alternative isoform of MLH1 protein. View all 7 isoforms
MLH1: DNA mismatch repair protein Mlh1 isoform 4
Description:

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].

Strand
+
Chromosome
3
Protein
687 residues
All mutations
1032
PTM sites
38
CDS
37,035,038 - 37,092,144
Transcription
37,034,840 - 37,092,337
21.69% of sequence is predicted to be disordered

Usage summary

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External references

Mappings retrieved from NCBI & UniProt.
RefSeq
Entrez
gene: 4292
UniProt