LDLR Chromosome 19
Low density lipoprotein receptor
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What This Gene Does
The low density lipoprotein receptor (LDLR) gene family consists of cell surface proteins involved in receptor-mediated endocytosis of specific ligands. The encoded protein is normally bound at the cell membrane, where it binds low density lipoprotein/cholesterol and is taken into the cell. Lysosomes release the cholesterol, which is made available for repression of microsomal enzyme 3-hydroxy-3-methylglutaryl coenzyme A (HMG CoA) reductase, the rate-limiting step in cholesterol synthesis. At the same time, a reciprocal stimulation of cholesterol ester synthesis takes place. Mutations in this gene cause the autosomal dominant disorder, familial hypercholesterolemia. Alternate splicing results in multiple transcript variants.[provided by RefSeq, May 2022]
Gene Info
Gene Group
"Low density lipoprotein receptors|MicroRNA protein coding host genes"
Locus Type
gene with protein product
Location
19p13.2
Ensembl
ENSG00000130164
Associated Conditions (24)
Familial hypercholesterolemia
Hypercholesterolemia
familial
1
Cardiovascular phenotype
Dyslipidemia
Homozygous familial hypercholesterolemia
LDLR-related disorder
See cases
Uterine corpus endometrial carcinoma
Ovarian serous cystadenocarcinoma
Gastric cancer
Clear cell carcinoma of kidney
Familial cancer of breast
Cowden syndrome 1
Hyperlipidemia
autosomal dominant
type B
Syndromic X-linked intellectual disability Najm type
Early-onset coronary artery disease
+4 more conditions
Key Variants
RS1019330092
Conflicting classifications of pathogenicity
Familial hypercholesterolemia, Familial hypercholesterolemia
Health Risk
RS1022251370
Conflicting classifications of pathogenicity
Familial hypercholesterolemia, Hypercholesterolemia, familial
Health Risk
RS1057516128
Conflicting classifications of pathogenicity
Hypercholesterolemia, familial, 1
Health Risk
RS1057519663
Conflicting classifications of pathogenicity
Hypercholesterolemia, familial, 1
Health Risk
RS1057519675
Conflicting classifications of pathogenicity
Familial hypercholesterolemia, Familial hypercholesterolemia
Health Risk
RS1057519677
Conflicting classifications of pathogenicity
Hypercholesterolemia, familial, 1
Health Risk
RS1060499932
Conflicting classifications of pathogenicity
Hypercholesterolemia, familial, 1
Health Risk
RS1131692196
Conflicting classifications of pathogenicity
Hypercholesterolemia, familial, 1
Health Risk
RS1131692213
Conflicting classifications of pathogenicity
Hypercholesterolemia, familial, 1
Health Risk
RS1131692216
Conflicting classifications of pathogenicity
Hypercholesterolemia, familial, 1
Health Risk
RS1131692222
Conflicting classifications of pathogenicity
Hypercholesterolemia, familial, 1
Health Risk
RS1135402773
Conflicting classifications of pathogenicity
Hypercholesterolemia, familial, 1
Health Risk
All Variants (1610)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS879255147 | Health Risk | Pathogenic/Likely pathogenic | Hypercholesterolemia, familial, 1 |
| RS879255164 | Health Risk | Pathogenic/Likely pathogenic | Hypercholesterolemia, familial, 1 |
| RS879255175 | Health Risk | Pathogenic/Likely pathogenic | Hypercholesterolemia, familial, 1 |
| RS879255176 | Health Risk | Pathogenic/Likely pathogenic | Hypercholesterolemia, familial, 1 |
| RS879255185 | Health Risk | Pathogenic/Likely pathogenic | Hypercholesterolemia, familial, 1 |
| RS879255186 | Health Risk | Pathogenic/Likely pathogenic | Hypercholesterolemia, familial, 1 |
| RS879255193 | Health Risk | Pathogenic/Likely pathogenic | Hypercholesterolemia, familial, 1 |
| RS879255212 | Health Risk | Pathogenic/Likely pathogenic | Hypercholesterolemia, familial, 1 |
| RS879255222 | Health Risk | Pathogenic/Likely pathogenic | Hypercholesterolemia, familial, 1 |
| RS879255223 | Health Risk | Pathogenic/Likely pathogenic | Hypercholesterolemia, familial, 1 |