About: TPMT wt Allele     Goto   Sponge   NotDistinct   Permalink

An Entity of Type : owl:Class, within Data Space : linked.opendata.cz:8890 associated with source document(s)

AttributesValues
rdf:type
rdfs:label
  • TPMT wt Allele
rdfs:subClassOf
OMIM_Number
  • 187680
GenBank_Accession_Number
  • NM_000367
Semantic_Type
  • Gene or Genome
Preferred_Name
  • TPMT wt Allele
UMLS_CUI
  • C1710316
GO_Annotation
  • nucleobase, nucleoside, nucleotide and nucleic acid metabolismGO:0006139TAS29-SEP-2003CGAP
  • thiopurine S-methyltransferase activityGO:0008119TAS29-SEP-2003CGAP
EntrezGene_ID
  • 7172
Legacy_Concept_Name
  • TPMT-1_Allele
HGNC_ID
  • HGNC:12014
FULL_SYN
  • TPMT*1 AlleleSYNCI
  • TPMT wt AllelePTNCI
  • TPMT, Wild-typeSYNCI
  • TPMT*1SYNCI
  • Thiopurine S-Methyltransferase wt AlleleSYNCI
  • TPMT Wild-type AlleleSYNCI
Gene_Encodes_Product
  • Thiopurine S-Methyltransferase
DEFINITION
  • Human TPMT wild-type allele is located in the vicinity of 6p22.3 and is approximately 26 kb in length. This allele, which encodes thiopurine S-methyltransferase protein, is involved in the S-methylation of thiopurine drugs. Certain allelic variants of the TPMT gene are associated with either decreased gene expression or reduced enzymatic activity of their corresponding protein products.NCI
DesignNote
  • Thiopurine S-methylation is an important metabolic pathway for thiopurine drugs such as 6-mercaptopurine. Both the tolerance and therapeutic efficacy of thiopurine drugs are altered in individuals who exhibit inherited defects in the TPMT gene. These changes in nucleotide sequence alter either gene expression or the catalytic activity of the encoded thiopurine S-methyltransferase enzyme. The catalytic activity of this enzyme varies among ethnic groups and is thought to be an important determinant of toxicity associated with thiopurine medications.
code
  • C45688
Faceted Search & Find service v1.16.121 as of Mar 31 2025


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]
OpenLink Virtuoso version 07.20.3240 as of Mar 31 2025, on Linux (x86_64-pc-linux-gnu), Single-Server Edition (126 GB total memory, 13 GB memory in use)
Data on this page belongs to its respective rights holders.
Virtuoso Faceted Browser Copyright © 2009-2025 OpenLink Software