Literature summary for 1.14.19.20 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.

Search for more literature for 1.14.19.20

Protein Variants

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

Natural Substrates/ Products (Substrates)

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

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	-	-	-

Source Tissue

Source Tissue	Comment	Organism	Textmining
liver	-	Homo sapiens	-

Substrates and Products (Substrate)

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

Synonyms

Synonyms	Comment	Organism
SC5DL	-	Homo sapiens
Sterol-C5-desaturase	-	Homo sapiens

Use of this online version of BRENDA is free under the CC BY 4.0 license. See terms of use for full details.

Release 2023.1 (January 2023)