Literature summary extracted from

Rossi, M.; DArmiento, M.; Parisi, I.; Ferrari, P.; Hall, C.M.; Cervasio, M.; Rivasi, F.; Balli, F.; Vecchione, R.; Corso, G.; Andria, G.; Parenti, G.
Clinical phenotype of lathosterolosis (2007), Am. J. Med. Genet. A, 143A, 2371-2381.

Protein Variants

EC Number	Protein Variants	Comment	Organism
1.14.19.20	additional information	enzyme deficiency leads to lathosterolosis, a defect of cholesterol biosynthesis, phenotype, detailed overview	Homo sapiens

Natural Substrates/ Products (Substrates)

EC Number	Natural Substrates	Organism	Comment (Nat. Sub.)	Natural Products	Comment (Nat. Pro.)	Rev.	Reac.
1.14.19.20	additional information	Homo sapiens	enzyme deficiency leads to lathosterolosis, a defect of cholesterol biosynthesis, phenotype, detailed overview	?	-	?

Organism

EC Number	Organism	UniProt	Comment	Textmining
1.14.19.20	Homo sapiens	-	-	-

Source Tissue

EC Number	Source Tissue	Comment	Organism	Textmining
1.14.19.20	liver	-	Homo sapiens	-

Substrates and Products (Substrate)

EC Number	Substrates	Comment Substrates	Organism	Products	Comment (Products)	Rev.	Reac.
1.14.19.20	additional information	enzyme deficiency leads to lathosterolosis, a defect of cholesterol biosynthesis, phenotype, detailed overview	Homo sapiens	?	-	?

Synonyms

EC Number	Synonyms	Comment	Organism
1.14.19.20	SC5DL	-	Homo sapiens
1.14.19.20	Sterol-C5-desaturase	-	Homo sapiens

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Release 2023.1 (January 2023)