LRPAP1

Chr 4

LDL receptor related protein associated protein 1

Also known as: A2MRAP, A2RAP, HBP44, MYP23, RAP, alpha-2-MRAP

NCBI Gene: 4043 ENSG00000163956 UniProt: P30533

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.

ResearchSummary from RefSeq, OMIM, UniProt

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]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtMyopia 23, autosomal recessive

Clinical highlights

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

1.17

LOEUF

LOF

Mechanism· G2P

Some data sources returned errors (1)

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