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DNA mismatch repair protein Mlh3; mutL protein homolog 3 (MLH3)
Function:
- DNA mismatch repair protein
- heterodimer of MLH1 & MLH3
Structure:
- belongs to the DNA mismatch repair mutL/hexB family
Compartment: nucleus (putative)
Alternative splicing: named isoforms=2
Expression:
- ubiquitous
- highly expressed in gastrointestinal epithelium
Pathology:
- defects in MLH3 are the cause of hereditary non-polyposis colorectal cancer type 7
- defects in MLH3 are a cause of colorectal cancer
General
mutL/PMS1 family protein
nuclear protein
phosphoprotein
Properties
SIZE: entity length = 1453 aa
MW = 164 kD
COMPARTMENT: cell nucleus
MOTIF: Thr phosphorylation site {T606}
Thr phosphorylation site {T610}
Database Correlations
OMIM correlations
MORBIDMAP 604395
UniProt Q9UHC1
PFAM correlations
Entrez Gene 27030
Kegg hsa:27030
References
- UniProt :accession Q9UHC1
- NIEHS-SNPs
http://egp.gs.washington.edu/data/mlh3/
- Lipkin SM et al
MLH3: a DNA mismatch repair gene associated with mammalian
microsatellite instability.
Nature Genetics 24:27-35 2000
PMID: 10615123