Literature summary for 2.5.1.21 extracted from

Do, R.; Pare, G.; Montpetit, A.; Hudson, T.J.; Gaudet, D.; Engert, J.C.
K45R variant of squalene synthase increases total cholesterol levels in two study samples from a French Canadian population (2008), Hum. Mutat., 29, 689-694.

Search for more literature for 2.5.1.21

Application

Application	Comment	Organism
medicine	single nuceotide polymorphism K45R, i.e. rs11549147:A>G is associated with increased total cholesterol and non-high-density lipoprotein cholesterol. Mutation also influences low-density lipolrotein cholesterol and triglycerides	Homo sapiens

Protein Variants

Protein Variants	Comment	Organism
K45R	single nuceotide polymorphism. Mutation is associated with increased total cholesterol and non-high-density lipoprotein cholesterol. Mutation also influences low-density lipolrotein cholesterol and triglycerides	Homo sapiens

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	-	a French Canadian population	-

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)