About: CETP 1 Allele     Goto   Sponge   Distinct   Permalink

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AttributesValues
rdf:type
rdfs:label
  • CETP 1 Allele
rdfs:subClassOf
OMIM_Number
  • 118470
Semantic_Type
  • Gene or Genome
Preferred_Name
  • CETP 1 Allele
UMLS_CUI
  • C1707124
Legacy_Concept_Name
  • CETP_B1_Allele
FULL_SYN
  • CETP 1 AllelePTNCI
  • CETP B1 AlleleSYNCI
  • CETP B1SYNCI
Gene_Encodes_Product
  • Cholesteryl Ester Transfer Protein
DEFINITION
  • Expressed in liver, human CETP B1 Allele is a variant form of CETP Gene (BPI/LBP Family), which encodes Cholesterol Ester Transfer Protein, a secreted plasma protein involved in the transfer of insoluble cholesteryl esters among lipoproteins in the reverse transport of cholesterol, a vital step in normal cholesterol metabolism and homeostasis. HDL cholesterol concentration is inversely related to the risk of coronary artery disease. CETP has a central role in HDL metabolism and may affect susceptibility to atherosclerosis; defects cause CETP deficiency. CETP B1 contains a polymorphic TaqI restriction site in intron 1, absent in CETP B2. B2 individuals show lower CETP activity and concentrations and higher plasma HDL-cholesterol; the B1 variant is associated with higher CETP and lower HDL-cholesterol. Atherosclerotic progression is more prevalent in B1 subjects than B2 subjects.NCI
code
  • C45681
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