Association of HDL deficiency with a novel mutation in the ABCA1 gene.
The ATP-binding cassette transporter A1 (ABCA1) is a membrane-bound protein that is abundant in macrophages and is essential for the first step of reverse cholesterol transport and maintenance of homeostasis of high-density lipoprotein (HDL)-bound cholesterol. Low serum HDL levels are associated with increased risk for cardiovascular disease. Homozygous and heterozygous mutations in the ABCA1 gene may be associated with increased atherosclerosis. Here we report about two heterozygous mutations c.5398A>C and c.2369G>A in the ABCA1 gene associated with HDL cholesterol deficiency in serum.
Medizinische Klinik und Poliklinik II, Klinikum der Universität München - Campus Großhadern, München.
G U
GU
Denk
C
C
Aslanidis
G
G
Schmitz
K G
KG
Parhofer
T
T
Pusl
D064286:ATP Binding Cassette Transporter 1; D018528:ATP-Binding Cassette Transporters / Q000235:genetics*; D008076:Cholesterol, HDL / Q000097:blood / Q000235:genetics*; D006801:Humans; D052456:Hypoalphalipoproteinemias / Q000235:genetics*; D008875:Middle Aged; D009154:Mutation
C577836:ABCA1 protein, human; D064286:ATP Binding Cassette Transporter 1; D018528:ATP-Binding Cassette Transporters; D008076:Cholesterol, HDL