About: MLH1 wt Allele     Goto   Sponge   NotDistinct   Permalink

An Entity of Type : owl:Class, within Data Space : linked.opendata.cz associated with source document(s)

AttributesValues
rdf:type
rdfs:label
  • MLH1 wt Allele
equivalentClass
OMIM_Number
  • 120436
Homologous_Gene
  • MUTL/HEXB Family, mutL (Bacterial)
GenBank_Accession_Number
  • U07343
Semantic_Type
  • Gene or Genome
Preferred_Name
  • MLH1 wt Allele
UMLS_CUI
  • C1704807
GO_Annotation
  • mismatch repairGO:0006298TAS29-SEP-2003CGAP
EntrezGene_ID
  • 4292
Legacy_Concept_Name
  • MLH1_wt_Allele
HGNC_ID
  • HGNC:7127
FULL_SYN
  • FCC2SYNCI
  • COCA2SYNCI
  • HNPCC2SYNCI
  • MGC5172SYNCI
  • MLH1 wt AllelePTNCI
  • hMLH1SYNCI
  • MutL Homolog 1, Colon Cancer, nonpolyposis type 2 (E. coli) wt AlleleSYNCI
Gene_Encodes_Product
  • DNA Mismatch Repair Protein MLH1
DEFINITION
  • Human MLH1 wild-type allele is located in the vicinity of 3p21.3 and is approximately 57 kb in length. This allele, which encodes DNA mismatch repair protein Mlh1, plays a role in DNA mismatch repair. Aberrant alleles are associated with colon, endometrial and stomach cancers. Further, the defects in MLH1 are a cause of hereditary non-polyposis colorectal cancer.NCI
DesignNote
  • The MLH1 gene (MUTL/HEXB family) consists of nineteen coding exons with exons 1 to 7 contain a highly conserved region. Widely expressed, several alternative splice variants occur in diverse tissue types. Some variants lack exons 6/9, 9, 9/10, 9/10/11, 10/11, 12, 16, or 17. The encoded protein, MutL Homolog 1 (MLH1), is part of the multi-subunit BASC complex, which may sense abnormal DNA structures and regulate post-replication repair. MLH1 and MLH3 also heterodimerize.
code
  • C50991
Faceted Search & Find service v1.16.118 as of Jun 21 2024


Alternative Linked Data Documents: ODE     Content Formats:   [cxml] [csv]     RDF   [text] [turtle] [ld+json] [rdf+json] [rdf+xml]     ODATA   [atom+xml] [odata+json]     Microdata   [microdata+json] [html]    About   
This material is Open Knowledge   W3C Semantic Web Technology [RDF Data] Valid XHTML + RDFa
OpenLink Virtuoso version 07.20.3240 as of Jun 21 2024, on Linux (x86_64-pc-linux-gnu), Single-Server Edition (126 GB total memory, 12 GB memory in use)
Data on this page belongs to its respective rights holders.
Virtuoso Faceted Browser Copyright © 2009-2025 OpenLink Software