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Literature summary extracted from

  • Farhat, N.Y.; Alexander, D.; McKee, K.; Iben, J.; Rodriguez-Gil, J.L.; Wassif, C.A.; Cawley, N.X.; Balch, W.E.; Porter, F.D.
    Sterol O-acyltransferase 1 (SOAT1) a genetic modifier of Niemann-Pick disease, type C1 (2024), Int. J. Mol. Sci., 25, 4217.
    View publication on PubMed

Organism

EC Number Organism UniProt Comment Textmining
2.3.1.26 Homo sapiens P35610
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-
2.3.1.26 Mus musculus Q61263
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-

Synonyms

EC Number Synonyms Comment Organism
2.3.1.26 Soat1
-
 Mus musculus
2.3.1.26 Soat1
-
 Homo sapiens
2.3.1.26 sterol O-acyltransferase 1
-
 Mus musculus
2.3.1.26 sterol O-acyltransferase 1
-
 Homo sapiens

General Information

EC Number General Information Comment Organism
2.3.1.26 drug target developing inhibitors of SOAT1 as a potential therapeutic approach for the treatment of the lethal neurodegenerative disorder Niemann-Pick disease type C1 Homo sapiens
2.3.1.26 malfunction decreased SOAT1 activity decreases disease severity in an Niemann-Pick disease type C1 mouse model Mus musculus
2.3.1.26 physiological function the enzyme (SOAT1) increases intracellular cholesterol bioavailability and may have a beneficial effect in Niemann-Pick disease type C1 phenotype Mus musculus
2.3.1.26 physiological function the enzyme (SOAT1) increases intracellular cholesterol bioavailability and may have a beneficial effect in Niemann-Pick disease type C1 phenotype Homo sapiens