Gene Symbol | LRPAP1 |
Entrez Gene ID | 4043 |
Full Name | LDL receptor related protein associated protein 1 |
Synonyms | A2MRAP,A2RAP,HBP44,MRAP,MYP23,RAP,alpha-2-MRAP |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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. [provided by RefSeq, Dec 2013]. |
Disorder MIM: | |
Disorder Html: | Myopia 23, autosomal recessive, 615431 (3) |