LDLR across dismech

LDLR (low density lipoprotein receptor) is named by 5 disorder entries.

Normal function

LDLR is the hepatocyte receptor that binds apoB-100 on LDL and carries it into the cell by clathrin-mediated endocytosis. The ai-gene-review record for LDLR is being completed upstream, and the pinned ingest snapshot does not yet carry its core functions, so this page makes no claim about them.

Causative record

One entry types LDLR as causative, LDLR-Related Familial Hypercholesterolemia, recording a germline variant with a loss of function consequence. ClinGen rates the gene definitive for that disease. In the entry the gene sits on the trigger node LDLR Loss-of-Function Variant and on the receptor-side binding-defect node Defective LDL Binding at the Hepatocyte Surface.

Other records

LDLR is typed as a modifier in Familial Defective Apolipoprotein B-100, where the causal lesion is in its ligand, apoB-100. Three broader entries carry LDLR with no relationship type: Coronary Artery Disease; Familial Hypercholesterolemia; and Hyperlipidemia.

Where the layers disagree

ClinGen classifies LDLR for 1 disease, and no dismech entry matched to it leaves the gene untyped (0).

The process terms on the KB's LDLR nodes include cholesterol metabolic process; low-density lipoprotein particle clearance; and receptor-mediated endocytosis. Because the ingest snapshot carries no ai-gene-review core functions for LDLR, the two layers currently share 0 GO terms; that count reflects the snapshot, not a disagreement in biology.