Literature summary for 5.4.99.7 extracted from

Mori, M.; Li, G.; Abe, I.; Nakayama, J.; Guo, Z.; Sawashita, J.; Ugawa, T.; Nishizono, S.; Serikawa, T.; Higuchi, K.; Shumiya, S.
Lanosterol synthase mutations cause cholesterol deficiency-associated cataracts in the Shumiya cataract rat (2006), J. Clin. Invest., 116, 395-404.

Search for more literature for 5.4.99.7

Application

Application	Comment	Organism
medicine	since the Shumiya cataract rat model represents a new example of hereditary cholesterol deficiency-associated cataracts, it should be useful in the development of therapeutic and/or preventive measures for cataracts	Rattus norvegicus

Cloned(Commentary)

Cloned (Comment)	Organism
expression in Saccharomyces cerevisiae	Rattus norvegicus

Protein Variants

Protein Variants	Comment	Organism
D139N	reduced activity	Rattus norvegicus
D139N/G189A/Q481R	induces cataracts in rats, produces only 39% of the lanosterol produced by wild-type	Rattus norvegicus
H469-C472del	deletion allele, inactive	Rattus norvegicus

Localization

Localization	Comment	Organism	GeneOntology No.	Textmining
microsome	-	Rattus norvegicus	-	-

Natural Substrates/ Products (Substrates)

Natural Substrates	Organism	Comment (Nat. Sub.)	Natural Products	Comment (Nat. Pro.)	Rev.	Reac.
(S)-2,3-epoxysqualene	Rattus norvegicus	-	lanosterol	-	?

Organism

Organism	UniProt	Comment	Textmining
Rattus norvegicus	P48450	Shumiya cataract rat	-

Source Tissue

Source Tissue	Comment	Organism	Textmining
lens	-	Rattus norvegicus	-
liver	-	Rattus norvegicus	-

Specific Activity [micromol/min/mg]

Specific Activity Minimum [µmol/min/mg]	Specific Activity Maximum [µmol/min/mg]	Comment	Organism
0.0000429	-	cataractous Shumiya cataract rat	Rattus norvegicus
0.000046	-	normal Shumiya cataract rat	Rattus norvegicus

Substrates and Products (Substrate)

Substrates	Comment Substrates	Organism	Products	Comment (Products)	Rev.	Reac.
(S)-2,3-epoxysqualene	-	Rattus norvegicus	lanosterol	-	?
2,3-oxidosqualene	-	Rattus norvegicus	lanosterol	-	?

Synonyms

Synonyms	Comment	Organism
lanosterol synthase	-	Rattus norvegicus

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Release 2023.1 (January 2023)