About: AKR1C2 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
  • AKR1C2 wt Allele
rdfs:subClassOf
OMIM_Number
  • 600450
GenBank_Accession_Number
  • NM_001354
Semantic_Type
  • Gene or Genome
Preferred_Name
  • AKR1C2 wt Allele
EntrezGene_ID
  • 1646
HGNC_ID
  • HGNC:385
FULL_SYN
  • DDSYNCI
  • DD2SYNCI
  • DD-2SYNCI
  • DDH2SYNCI
  • HBABSYNCI
  • BABPSYNCI
  • AKR1C2 wt AllelePTNCI
  • MCDR2SYNCI
  • HAKRDSYNCI
  • SRXY8SYNCI
  • Aldo-Keto Reductase Family 1, Member C2 wt AlleleSYNCI
  • DD/BABPSYNCI
DEFINITION
  • Human AKR1C2 wild-type allele is located within 10p15-p14 and is approximately 30 kb in length. This allele, which encodes aldo-keto reductase family 1 member C2 protein, is involved in the metabolism of steroid hormones and the inactivation of androgens. Mutations in this gene are associated with 46XY sex reversal 8.NCI
DesignNote
  • Three transcript variants encoding two different isoforms have been found for this gene.
code
  • C105427
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