Gene: LRPAP1

Alternate names for this Gene: A2MRAP|A2RAP|HBP44|MRAP|MYP23|RAP|alpha-2-MRAP

Gene Summary: 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.

Gene is located in Chromosome: 4

Location in Chromosome : 4p16.3

Description of this Gene: LDL receptor related protein associated protein 1

Type of Gene: protein-coding

rs1794429 in LRPAP1 gene and Myocardial Infarction PMID 21211798 2011 Association of a polymorphism of BTN2A1 with myocardial infarction in East Asian populations.

rs773243225 in LRPAP1 gene and Rare isolated myopia PMID 26271838 2016 Clinical Characterization of LRPAP1-Related Pediatric High Myopia.

PMID 25525168 2014 Detection of mutations in LRPAP1, CTSH, LEPREL1, ZNF644, SLC39A5, and SCO2 in 298 families with early-onset high myopia by exome sequencing.

PMID 23830514 2013 Mutations in LRPAP1 are associated with severe myopia in humans.