LRP8 Chromosome 1

LDL receptor related protein 8
2 variants 2 Health Risk

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What This Gene Does
This gene encodes a member of the low density lipoprotein receptor (LDLR) family. Low density lipoprotein receptors are cell surface proteins that play roles in both signal transduction and receptor-mediated endocytosis of specific ligands for lysosomal degradation. The encoded protein plays a critical role in the migration of neurons during development by mediating Reelin signaling, and also functions as a receptor for the cholesterol transport protein apolipoprotein E. Expression of this gene may be a marker for major depressive disorder. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jun 2011]
Gene Info
Gene Group
Low density lipoprotein receptors
Locus Type
gene with protein product
Location
1p32.3
Ensembl
ENSG00000157193
Associated Conditions (3)
Myocardial infarction
susceptibility to
1
Key Variants
All Variants (2)
RSID Category Clinical Significance Conditions
RS757087137 Health Risk Conflicting classifications of pathogenicity
RS5174 Health Risk risk factor Myocardial infarction, susceptibility to, 1
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