About: TPO wt Allele     Goto   Sponge   Distinct   Permalink

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

AttributesValues
rdf:type
rdfs:label
  • TPO wt Allele
equivalentClass
OMIM_Number
  • 606765
GenBank_Accession_Number
  • NM_000547
Semantic_Type
  • Gene or Genome
Preferred_Name
  • TPO wt Allele
UMLS_CUI
  • C1704876
GO_Annotation
  • integral to plasma membraneGO:0005887TAS29-SEP-2003CGAP
  • peroxidase activityGO:0004601TAS29-SEP-2003CGAP
  • thyroid hormone generationGO:0006590NR29-SEP-2003CGAP
EntrezGene_ID
  • 7173
Legacy_Concept_Name
  • TPO_wt_Allele
HGNC_ID
  • HGNC:12015
FULL_SYN
  • TPO wt AllelePTNCI
  • MSASYNCI
  • TPXSYNCI
  • Thyroid Peroxidase wt AlleleSYNCI
Gene_Encodes_Product
  • Thyroid Peroxidase
DEFINITION
  • Human TPO wild-type allele is located within 2p25 and is approximately 129 kb in length. This allele, which encodes thyroid peroxidase protein, plays a role in biosynthesis of thyroxine and triiodothyronine. Heritable polymorphisms in the TPO gene commonly result in total iodine organification defect which, in turn, causes severe congenital hypothyroidism.NCI
DesignNote
  • An alternative splicing in the TPO mRNA transcript is associated with Grave's disease. The TPO gene encodes 8 or more isoforms of thyroid peroxidase protein.
code
  • C50938
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