3beta-hydroxysterol delta24-reductase

Preferred Label : 3beta-hydroxysterol delta24-reductase;

MeSH note : mutations in the gene cause desmosterolosis, an autosomal recessive disorder of cholesterol biosynthesis; catalyzes the reduction of the delta-24 double bond of sterol intermediates during cholesterol biosynthesis; involved in resistance to neurodegeneration and oxidative stress in Alzheimer's disease; DIMINUTO/DWARF1 homolog; RefSeq NM_014762 (human); NM_053272 (mouse);

Registry Number MeSH : EC 1.3.1.-;

Is substance : O;

Details

Origin ID

C437069;

UMLS CUI

C1098026;

MeSH indexing information
- apoptosis [MeSH Descriptor]
MeSH term(s) associated for indexing
- nerve tissue proteins [MeSH Descriptor]
- oxidoreductases acting on CH-CH group donors [MeSH Descriptor]
Record concept(s)
- 3beta-hydroxysterol delta24-reductase [MeSH concept]
Semantic type(s)
- Amino Acid, Peptide, or Protein [UMLS semantic type]
- Enzyme [UMLS semantic type]

Keyword's position in hierarchy(ies) :

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