ERAP1 Chromosome 5
Endoplasmic reticulum aminopeptidase 1
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What This Gene Does
The protein encoded by this gene is an aminopeptidase involved in trimming HLA class I-binding precursors so that they can be presented on MHC class I molecules. The encoded protein acts as a monomer or as a heterodimer with ERAP2. This protein may also be involved in blood pressure regulation by inactivation of angiotensin II. Three transcript variants encoding two different isoforms have been found for this gene.[provided by RefSeq, Oct 2010]
Gene Info
Gene Group
"Aminopeptidases|Minor histocompatibility antigens|M1 metallopeptidases"
Locus Type
gene with protein product
Location
5q15
Ensembl
ENSG00000164307
All Variants (1)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS201856260 | Health Risk | Conflicting classifications of pathogenicity | — |