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Ovarian Kaleidoscope Database (OKdb)

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HPMR

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Postmeiotic Segregation Increased, S. Cerevisiae, 1 OKDB#: 3279
 Symbols: PMS1 Species: human
 Synonyms: PMSL1, hPMS1, HNPCC3, DKFZp781M0253,MISMATCH REPAIR GENE PMSL1, PMSL1|COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 3, INCLUDED, HNPCC3, INCLUDED  Locus: 2q31-q33 in Homo sapiens


For retrieval of Nucleotide and Amino Acid sequences please go to: OMIM Entrez Gene
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link to BioGPS
General Comment NCBI Summary: The protein encoded by this gene was identified by its homology to a yeast protein involved in DNA mismatch repair. A role for this protein in mismatch repair has not been proven. However, the protein forms heterodimers with MLH1, a DNA mismatch repair protein, and some cases of hereditary nonpolyposis colorectal cancer have been found to have mutations in this gene.
General function Cell death/survival, Cell cycle regulation, Transcription factor
Comment
Cellular localization Nuclear
Comment
Ovarian function Oogenesis, Oocyte maturation
Comment Gene whose expression is detected by cDNA array hybridization: GDP/GTP exchangers, GTPase stimulators and inhibitors, apoptosis. Also, relative transcript level reproducibly increases during IVM Rozenn Dalbis-Tran and Pascal Mermilloda
Expression regulated by
Comment
Ovarian localization
Comment
Follicle stages
Comment
Phenotypes
Mutations 0 mutations
Genomic Region show genomic region
Phenotypes and GWAS show phenotypes and GWAS
Links
OMIM (Online Mendelian Inheritance in Man: an excellent source of general gene description and genetic information.)
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created: June 22, 2006, 2:49 p.m. by: alex   email:
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last update: July 26, 2006, 12:05 p.m. by: Alex    email:



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