LRPAP1
Chr 4ARLDL receptor related protein associated protein 1
Also known as: A2MRAP, A2RAP, HBP44, MYP23, RAP, alpha-2-MRAP
This gene encodes a molecular chaperone that facilitates proper folding and localization of LDL receptor-related proteins and prevents premature ligand binding along the secretory pathway. Mutations cause autosomal recessive myopia 23, affecting vision development. The gene shows low constraint to loss-of-function variation (pLI near 0, LOEUF >1), consistent with its recessive inheritance pattern.
Primary Disease Associations & Inheritance
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
254 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 3 | 0 | 116 | 0 | 119 |
Likely Pathogenic | 1 | 0 | 6 | 0 | 7 |
VUS | 0 | 81 | 4 | 0 | 85 |
Likely Benign | 0 | 13 | 3 | 4 | 20 |
Benign | 0 | 3 | 0 | 6 | 9 |
| Total | 4 | 97 | 129 | 10 | 240 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
LRPAP1 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools