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- NCIT_C192164 IAO_0000115 "A change in the amino acid residue at position 504 in aldehyde dehydrogenase, mitochondrial protein where glutamic acid has been replaced by lysine." @default.
- NCIT_C192164 NCIT_NHC0 "C192164" @default.
- NCIT_C192164 NCIT_P106 "Cell or Molecular Dysfunction" @default.
- NCIT_C192164 NCIT_P107 "ALDH2 NP_000681.2:p.E504K" @default.
- NCIT_C192164 NCIT_P108 "ALDH2 NP_000681.2:p.E504K" @default.
- NCIT_C192164 NCIT_P171 "28253921" @default.
- NCIT_C192164 NCIT_P208 "CL1905558" @default.
- NCIT_C192164 NCIT_P322 "CTRP" @default.
- NCIT_C192164 NCIT_P98 "The E504K substitution in the aldehyde dehydrogenase, mitochondrial protein (ALDH2) was initially identified as E487K because the residue numbering didn't include the 17 amino acid mitochondrial leader peptide. ALDH2 E504K is enzymatically inactive but immunologically cross-reactive. This substitution also appears to exert a dominant negative effect on ALDH2 activity by increasing turnover of the enzyme. Upon expression of this variant, the decreased ALDH2 activity in the liver causes accumulation of acetaldehyde in the circulation, even after a moderate amount of alcohol intake, and is a factor in both acute alcohol intoxication and greater susceptibility to some types of cancer. ALDH2 E504K expression is essentially absent among Europeans, but is highly prevalent among East Asians, where it causes cutaneous flushing following alcohol consumption. (EntrezGene, OMIM, J Biomed Sci. 2017; 24:19.)" @default.
- NCIT_C192164 NCIT_R177 NCIT_C16612 @default.
- NCIT_C192164 NCIT_R177 NCIT_C21281 @default.
- NCIT_C192164 NCIT_R177 NCIT_C25939 @default.
- NCIT_C192164 NCIT_R177 NCIT_C84921 @default.
- NCIT_C192164 NCIT_R179 NCIT_C178119 @default.
- NCIT_C192164 NCIT_R179 NCIT_C192161 @default.
- NCIT_C192164 NCIT_R179 NCIT_C192163 @default.
- NCIT_C192164 NCIT_R179 NCIT_C36327 @default.
- NCIT_C192164 NCIT_R179 NCIT_C36391 @default.
- NCIT_C192164 NCIT_R179 NCIT_C3910 @default.
- NCIT_C192164 NCIT_R179 NCIT_C97926 @default.
- NCIT_C192164 NCIT_R179 NCIT_C97927 @default.
- NCIT_C192164 NCIT_R182 NCIT_C16554 @default.
- NCIT_C192164 NCIT_R182 NCIT_C16946 @default.
- NCIT_C192164 NCIT_R182 NCIT_C17021 @default.
- NCIT_C192164 NCIT_R182 NCIT_C20027 @default.
- NCIT_C192164 NCIT_R182 NCIT_C26548 @default.
- NCIT_C192164 NCIT_R182 NCIT_C84997 @default.
- NCIT_C192164 normalizedInformationContent "95.413332725061409" @default.
- NCIT_C192164 referenceCount "2" @default.
- NCIT_C192164 hasExactSynonym "ALDH Class 2 E504K" @default.
- NCIT_C192164 hasExactSynonym "ALDH Class 2 Glu504Lys" @default.
- NCIT_C192164 hasExactSynonym "ALDH-E2 E504K" @default.
- NCIT_C192164 hasExactSynonym "ALDH-E2 Glu504Lys" @default.
- NCIT_C192164 hasExactSynonym "ALDH2 E487K" @default.
- NCIT_C192164 hasExactSynonym "ALDH2 E504K" @default.
- NCIT_C192164 hasExactSynonym "ALDH2 Glu487Lys" @default.
- NCIT_C192164 hasExactSynonym "ALDH2 Glu504Lys" @default.
- NCIT_C192164 hasExactSynonym "ALDH2 NP_000681.2:p.E504K" @default.
- NCIT_C192164 hasExactSynonym "ALDH2 NP_000681.2:p.Glu504Lys" @default.
- NCIT_C192164 hasExactSynonym "ALDH2 p.E504K" @default.
- NCIT_C192164 hasExactSynonym "ALDH2 p.Glu504Lys" @default.
- NCIT_C192164 hasExactSynonym "ALDH2*2 Isozyme" @default.
- NCIT_C192164 hasExactSynonym "ALDH2*2 Protein Variant" @default.
- NCIT_C192164 hasExactSynonym "ALDHI E504K" @default.
- NCIT_C192164 hasExactSynonym "ALDHI Glu504Lys" @default.
- NCIT_C192164 hasExactSynonym "Aldehyde Dehydrogenase, Mitochondrial E504K" @default.
- NCIT_C192164 hasExactSynonym "NP_000681.2:p.E504K" @default.
- NCIT_C192164 hasExactSynonym "NP_000681.2:p.Glu504Lys" @default.
- NCIT_C192164 inSubset NCIT_C116977 @default.
- NCIT_C192164 inSubset NCIT_C142799 @default.
- NCIT_C192164 inSubset NCIT_C142800 @default.
- NCIT_C192164 type Class @default.
- NCIT_C192164 isDefinedBy ncit.owl @default.
- NCIT_C192164 label "ALDH2 NP_000681.2:p.E504K" @default.
- NCIT_C192164 subClassOf B23fccb120fd563e9c1a1737d876d8a57 @default.
- NCIT_C192164 subClassOf Bb067e9cb1ef64dade35ba65f6b8efeb4 @default.
- NCIT_C192164 subClassOf NCIT_C192162 @default.
- NCIT_C192164 subClassOf NCIT_C192164 @default.
- NCIT_C192164 subClassOf NCIT_C3910 @default.
- NCIT_C192164 subClassOf NCIT_C97926 @default.
- NCIT_C192164 subClassOf NCIT_C97928 @default.