Literature summary for 2.3.1.43 extracted from

Fountoulakis, N.; Lioudaki, E.; Lygerou, D.; Dermitzaki, E.K.; Papakitsou, I.; Kounali, V.; Holleboom, A.G.; Stratigis, S.; Belogianni, C.; Syngelaki, P.; Stratakis, S.; Evangeliou, A.; Gakiopoulou, H.; Kuivenhoven, J.A.; Wevers, R.; Dafnis, E.; Stylianou, K.
The P274S mutation of lecithin-cholesterol acyltransferase (LCAT) and its clinical manifestations in a large kindred (2019), Am. J. Kidney Dis., 74, 510-522 .

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Protein Variants

Protein Variants	Comment	Organism
P274S	the homozygous mutation causes familial lecithin-cholesterol acyltransferase deficiency with renal involvement	Homo sapiens

Natural Substrates/ Products (Substrates)

Natural Substrates	Organism	Comment (Nat. Sub.)	Natural Products	Comment (Nat. Pro.)	Rev.	Reac.
phosphatidylcholine + a sterol	Homo sapiens	-	1-acylglycerophosphocholine + a sterol ester	-	?

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	P04180	-	-

Source Tissue

Source Tissue	Comment	Organism	Textmining
blood	-	Homo sapiens	-

Substrates and Products (Substrate)

Substrates	Comment Substrates	Organism	Products	Comment (Products)	Rev.	Reac.
phosphatidylcholine + a sterol	-	Homo sapiens	1-acylglycerophosphocholine + a sterol ester	-	?
phosphatidylcholine + cerebrosterol	-	Homo sapiens	1-acylglycerophosphocholine + cerebrosteryl ester	-	?
phosphatidylcholine + cholesterol	-	Homo sapiens	1-acylglycerophosphocholine + cholesteryl ester	-	?

Subunits

Subunits	Comment	Organism
?	x * 67000, calculated from amino acid sequence	Homo sapiens

Synonyms

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

General Information

General Information	Comment	Organism
malfunction	homozygosity for loss-of-function mutations causes familial lecithin-cholesterol acyltransferase deficiency, characterized by corneal opacities, anemia, and renal involvement	Homo sapiens

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Release 2023.1 (January 2023)