MLH3

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MutL homolog 3 (E. coli)
Identifiers
Symbols MLH3 ; HNPCC7
External IDs OMIM604395 MGI1353455 HomoloGene91153 GeneCards: MLH3 Gene
RNA expression pattern
PBB GE MLH3 204838 s at tn.png
PBB GE MLH3 214525 x at tn.png
PBB GE MLH3 217216 x at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 27030 217716
Ensembl ENSG00000119684 ENSMUSG00000021245
UniProt Q9UHC1 Q68FG1
RefSeq (mRNA) NM_001040108 NM_145446
RefSeq (protein) NP_001035197 NP_780546
Location (UCSC) Chr 14:
75.48 – 75.52 Mb
Chr 12:
85.23 – 85.27 Mb
PubMed search [1] [2]

DNA mismatch repair protein Mlh3 is a protein that in humans is encoded by the MLH3 gene.[1][2]

This gene is a member of the MutL-homolog (MLH) family of DNA mismatch repair (MMR) genes. MLH genes are implicated in maintaining genomic integrity during DNA replication and after meiotic recombination. The protein encoded by this gene functions as a heterodimer with other family members. Somatic mutations in this gene frequently occur in tumors exhibiting microsatellite instability, and germline mutations have been linked to hereditary nonpolyposis colorectal cancer type 7 (HNPCC7). Several alternatively spliced transcript variants have been identified, but the full-length nature of only two transcript variants has been determined.[2]

Interactions[edit]

MLH3 has been shown to interact with MSH4.[3]

References[edit]

  1. ^ Lipkin SM, Wang V, Jacoby R, Banerjee-Basu S, Baxevanis AD, Lynch HT, Elliott RM, Collins FS (Feb 2000). "MLH3: a DNA mismatch repair gene associated with mammalian microsatellite instability". Nat Genet 24 (1): 27–35. doi:10.1038/71643. PMID 10615123. 
  2. ^ a b "Entrez Gene: MLH3 mutL homolog 3 (E. coli)". 
  3. ^ Santucci-Darmanin, Sabine; Neyton Sophie, Lespinasse Françoise, Saunières Anne, Gaudray Patrick, Paquis-Flucklinger Véronique (Jul 2002). "The DNA mismatch-repair MLH3 protein interacts with MSH4 in meiotic cells, supporting a role for this MutL homolog in mammalian meiotic recombination". Hum. Mol. Genet. (England) 11 (15): 1697–706. doi:10.1093/hmg/11.15.1697. ISSN 0964-6906. PMID 12095912. 

Further reading[edit]