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. 2015 Oct;56(10):1993–2001. doi: 10.1194/jlr.P058891

TABLE 1.

List of genes sequenced

Phenotype Gene MIM Number Disease Locus Number of Exons
Low HDL-C ABCA1 600046 Tangier disease 9q31.1 50
Low HDL-C APOA1 107680 ApoA-I deficiency 11q23-q24 5
Low HDL-C APOA2 107670 ApoA-II deficiency 1q23.3 4
Low HDL-C LCAT 606967 Familial LCAT deficiency/fish eye disease 16q22.1 6
Low HDL-C NPC1 607623 Niemann-Pick disease 18q11.2 27
Low HDL-C PLTP 172425 20q13.12 17
High HDL-C CETP 118470 16q21 17
High HDL-C GALNT2 602274 1q41-q42 16
High HDL-C LIPG 603684 18q21.1 11
High HDL-C SCARB1 601040 12q24.31 13
High LDL-C ABCG5 605459 Sitosterolemia 2p21 16
High LDL-C ABCG8 605460 Sitosterolemia 2p21 13
High LDL-C/low LDL-C APOB 107730 FH 2p24-p23 29
High LDL-C LDLR 606945 FH 19p13.2 18
High LDL-C LDLRAP1 605747 FH 1p36-p35 13
High LDL-C/low LDL-C PCSK9 607786 FH 1p32.3 12
Low LDL-C MTTP 157147 Abetalipoproteinemia 4q24 19
High TG APOA5 606368 11q23 4
High TG APOC2 608083 Chlyomicronemia 19q13.2 4
High TG APOE 107741 Dysbetalipoproteinemia 19q13.2 4
High TG GPIHBP1 612757 8q24.3 4
High TG LMF1 611761 16p13.3 20
High TG LPL 609708 Chlyomicronemia 8p22 10
Low TG/high HDL-C APOC3 107720 11q23.3 4
High lipoprotein (a) LPA 152200 6q26 40
Statin myopathy SLCO1B1 604843 12p 15

The MIM number is from the Online Mendelian Inheritance in Man database. FH, familial hypercholesterolemia.