About: CYP1B1 wt Allele     Goto   Sponge   NotDistinct   Permalink

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AttributesValues
rdf:type
rdfs:label
  • CYP1B1 wt Allele
rdfs:subClassOf
OMIM_Number
  • 601771
GenBank_Accession_Number
  • U56438
Semantic_Type
  • Gene or Genome
Preferred_Name
  • CYP1B1 wt Allele
EntrezGene_ID
  • 1545
HGNC_ID
  • HGNC:2597
FULL_SYN
  • Cytochrome P450, Family 1, Subfamily B, Polypeptide 1 wt AlleleSYNCI
  • CP1BSYNCI
  • CYP1B1 wt AllelePTNCI
  • GLC3ASYNCI
  • Cytochrome P450, Subfamily I (Dioxin-Inducible), Polypeptide 1 (Glaucoma 3, Primary Infantile) GeneSYNCI
  • CYPIB1SYNCI
  • P4501B1SYNCI
DEFINITION
  • Human CYP1B1 wild-type allele is located in the vicinity of 2p22.2 and is approximately 43 kb in length. This allele, which encodes cytochrome P450 1B1 protein, is involved in both the development of the eye and the metabolism of xenobiotics and steroids. Mutation of the gene is associated with primary congenital glaucoma type 3A, primary open angle glaucoma and Peters anomaly.NCI
code
  • C104235
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