LRPAP1 Chromosome 4
LDL receptor related protein associated protein 1
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What This Gene Does
This gene encodes a protein that interacts with the low density lipoprotein (LDL) receptor-related protein and facilitates its proper folding and localization by preventing the binding of ligands. Mutations in this gene have been identified in individuals with myopia 23. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]
Associated Conditions (3)
Myopia 23
autosomal recessive
Rare isolated myopia
Key Variants
RS398122836
Likely pathogenic
Myopia 23, autosomal recessive, Myopia 23
Health Risk
RS773243225
Likely pathogenic
Rare isolated myopia, Rare isolated myopia
Health Risk
RS763010898
Pathogenic
Myopia 23, autosomal recessive, Myopia 23
Health Risk
RS786205127
Pathogenic
Myopia 23, autosomal recessive, Myopia 23
Health Risk
RS786205216
Pathogenic
Myopia 23, autosomal recessive, Myopia 23
Health Risk
All Variants (5)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS398122836 | Health Risk | Likely pathogenic | Myopia 23, autosomal recessive, Myopia 23 |
| RS773243225 | Health Risk | Likely pathogenic | Rare isolated myopia, Rare isolated myopia |
| RS763010898 | Health Risk | Pathogenic | Myopia 23, autosomal recessive, Myopia 23 |
| RS786205127 | Health Risk | Pathogenic | Myopia 23, autosomal recessive, Myopia 23 |
| RS786205216 | Health Risk | Pathogenic | Myopia 23, autosomal recessive, Myopia 23 |