Literature summary for 2.3.1.43 extracted from

Bender, B.U.; Quaschning, T.; Neumann, H.P.; Schmidt, D.; Kraemer-Guth, A.
A novel frameshift mutation of the lecithin:cholesterol acyltransferase (LCAT) gene associated with renal failure in familial LCAT deficiency (2007), Clin. Chem. Lab. Med., 45, 483-486.

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Protein Variants

Protein Variants	Comment	Organism
additional information	a frameshift mutation, insertion of an adenine identified at codon 178 generating a Tsp 509 I restriction site, s AATT, in exon 5 of the LCAT gene is associated with renal failure with proteinuria, corneal opacity, and anemia in familial LCAT deficiency	Homo sapiens

Natural Substrates/ Products (Substrates)

Natural Substrates	Organism	Comment (Nat. Sub.)	Natural Products	Comment (Nat. Pro.)	Rev.	Reac.
additional information	Homo sapiens	a frameshift mutation of the LCAT gene is associated with renal failure with proteinuria, corneal opacity, and anemia in familial LCAT deficiency	?	-	?

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	-	-	-

Substrates and Products (Substrate)

Substrates	Comment Substrates	Organism	Products	Comment (Products)	Rev.	Reac.
additional information	a frameshift mutation of the LCAT gene is associated with renal failure with proteinuria, corneal opacity, and anemia in familial LCAT deficiency	Homo sapiens	?	-	?

Synonyms

Synonyms	Comment	Organism
LCAT	-	Homo sapiens
lecithin:cholesterol acyltransferase	-	Homo sapiens

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Release 2023.1 (January 2023)