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. Author manuscript; available in PMC: 2022 Feb 10.
Published in final edited form as: Annu Rev Physiol. 2021 Feb 10;83:551–576. doi: 10.1146/annurev-physiol-031620-123956

Table 7.

Pathogenic mutations in PAH

Gene Located Parameters References
BMPR2 Chromosome 2 ↑Citrate,
↑Glutamine metabolism,
↑Glycolysis,
↑HIF-1α expression,
↑Isocitrate dehydrogenase (IDH) activity,
↑Lipid accumulation,
↑Mitochondrial ROS,
↓Acylcarnitines,
↓Fatty acid β-oxidation,
↓Malate, fumarate, and succinate		 (39, 56, 76, 108, 112–114)
ALK-1 Chromosome 12 glucose and lipid metabolism (119)
ENG Chromosome 9 ↓Hepatic triglyceride content,
↓Insulin levels,
↓NO production [↓eNOS]		 (120, 121)
SMAD9 Chromosome 13
CAV1 Chromosome 7
 ↑Lipid uptake,
↑14C-palmitate oxidation,
↑cAMP,
↑eNOS-derived NO synthesis and vasodilation,
↓Triglycerides, fatty acids, and cholesterol		 (57, 125)
KCNK3 Chromosome 2 ↑cAMP,
↑Lipolysis rate,
↓Lipid accumulation		 (124)