About: SRD5A3 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
  • SRD5A3 wt Allele
rdfs:subClassOf
OMIM_Number
  • 611715
GenBank_Accession_Number
  • NM_024592
Semantic_Type
  • Gene or Genome
Preferred_Name
  • SRD5A3 wt Allele
EntrezGene_ID
  • 79644
HGNC_ID
  • HGNC:25812
FULL_SYN
  • Steroid 5 Alpha-Reductase 3 wt AlleleSYNCI
  • SRD5A3 wt AllelePTNCI
  • CDG1PSYNCI
  • CDG1QSYNCI
  • KRIZISYNCI
  • S5AR 3SYNCI
  • SRD5A2LSYNCI
  • FLJ13352SYNCI
  • SRD5A2L1SYNCI
DEFINITION
  • Human SRD5A3 wild-type allele is located 4q12 and is approximately 27 kb in length. This allele, which encodes probable polyprenol reductase protein, is involved in both the metabolism of testosterone and the early steps of protein N-linked glycosylation. Mutations in this gene are associated with congenital disorder of glycosylation type Iq.NCI
code
  • C105162
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