About: CYP11B1 wt Allele     Goto   Sponge   NotDistinct   Permalink

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AttributesValues
rdf:type
rdfs:label
  • CYP11B1 wt Allele
equivalentClass
OMIM_Number
  • 610613
GenBank_Accession_Number
  • NM_000497
Semantic_Type
  • Gene or Genome
Preferred_Name
  • CYP11B1 wt Allele
UMLS_CUI
  • C1705796
EntrezGene_ID
  • 1584
Legacy_Concept_Name
  • CYP11B1_wt_Allele
HGNC_ID
  • HGNC:2591
FULL_SYN
  • Cytochrome P450, Family 11, Subfamily B, Polypeptide 1 wt AlleleSYNCI
  • FHISYNCI
  • CPN1SYNCI
  • S11BHSYNCI
  • CYP11B1 wt AllelePTNCI
  • CYP11BSYNCI
  • P450C11SYNCI
Gene_Encodes_Product
  • Cytochrome P450 11B1
DEFINITION
  • Human CYP11B1 wild-type allele is located within 8q21 and is approximately 7 kb in length. This allele, which encodes cytochrome P450 11B1, mitochondrial protein, plays a role in the conversion of progesterone to cortisol in the adrenal cortex. Functional mutations in the CYP11B1 gene can result in 11-beta-hydroxylase deficiency which, in turn, causes congenital adrenal hyperplasia. CYP11B1/CYP11B2 gene fusion causes glucocorticoid-remediable aldosteronism.NCI
code
  • C52319
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