← Gene index
LDLR
HGNC ↗1 article(s) in the watch · Constitutional genetics
LDLR encodes the LDL receptor. Loss of function causes familial hypercholesterolaemia, with high premature cardiovascular risk.
InheritanceDominant (co-dominant: severe homozygous forms)
Clinical spectrumHypercholesterolaemia, premature coronary disease
ManagementHigh-intensity statins, ezetimibe, PCSK9 inhibitors; cascade family screening.