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Protein Coding Gene : Mlh1 mutL homolog 1

Primary Identifier  MGI:101938 Organism  mouse, laboratory
Chromosome  9 NCBI Gene Number  17350
Mgi Type  protein coding gene
description  FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0)

Enables chromatin binding activity and guanine/thymine mispair binding activity. Involved in positive regulation of isotype switching to IgA isotypes and positive regulation of isotype switching to IgG isotypes. Acts upstream of or within several processes, including DNA metabolic process; meiotic nuclear division; and regulation of nucleobase-containing compound metabolic process. Located in condensed nuclear chromosome and male germ cell nucleus. Part of MutLalpha complex. Is expressed in several structures, including central nervous system; endocrine gland; genitourinary system; oral epithelium; and respiratory system. Used to study Lynch syndrome. Human ortholog(s) of this gene implicated in Lynch syndrome (multiple); gastrointestinal system cancer (multiple); lung cancer; mismatch repair cancer syndrome; and sporadic breast cancer. Orthologous to human MLH1 (mutL homolog 1).
PHENOTYPE: Homozygotes for targeted null mutations exhibit reduced pairing in meiotic prophase I and produce no mature germ cells. Mutants also display increased microsatellite instability and a predisposition for developing intestinal and other tumors. [provided by MGI curators]
  • synonyms:
  • AI561766,
  • expressed sequence AI561766,
  • MGI:2143023,
  • MGD-MRK-18771,
  • 1110035C23Rik,
  • expressed sequence AI317206,
  • RIKEN cDNA 1110035C23 gene,
  • AI325952,
  • AI317206,
  • mutL homolog 1,
  • Mlh1,
  • colon cancer, nonpolyposis type 2,
  • MGI:2143018,
  • MGI:2143094,
  • expressed sequence AI325952,
  • MGI:1915937

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Canonical gene --> CDSs in specific strains.

Canonical gene --> Exons in specific strains

Canonical gene --> Strain-specific IDs, biotypes, and locations

Canonical gene --> Transcripts in specific strains.

Features --> Overlapping features

Proteins

Gene --> Proteins

Function

Mouse features --> Functions (GO terms)

Homology

Genes --> Homologs

Interactions

3 Pathways

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Gene --> Protein-Protein Interactions

Expression

Gene --> Expression annotations

Phenotype

Genes/Features --> Phenotypes (MP terms)

Disease

Mouse features --> Human diseases

Literature

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