AOPEP Chromosome 9
Aminopeptidase O (putative)
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What This Gene Does
This gene encodes a member of the M1 zinc aminopeptidase family. The encoded protein is a zinc-dependent metallopeptidase that catalyzes the removal of an amino acid from the amino terminus of a protein or peptide. This protein may play a role in the generation of angiotensin IV. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Oct 2010]
Gene Info
Gene Group
"M1 metallopeptidases|MicroRNA protein coding host genes"
Locus Type
gene with protein product
Location
9q22.32
Ensembl
ENSG00000148120
Associated Conditions (4)
Dystonia 31
AOPEP-related disorder
Clear cell carcinoma of kidney
Sarcoma
Key Variants
RS747916174
Likely pathogenic
Dystonia 31, AOPEP-related disorder, Dystonia 31
Health Risk
RS776739942
Likely pathogenic
Dystonia 31, Dystonia 31
Health Risk
RS779393035
Likely pathogenic
Dystonia 31, Clear cell carcinoma of kidney, Sarcoma
Health Risk
RS1043405296
Pathogenic
Dystonia 31, Dystonia 31
Health Risk
RS2540340757
Pathogenic
Dystonia 31, Dystonia 31
Health Risk
RS577000059
Pathogenic
Dystonia 31, Dystonia 31
Health Risk
RS778493729
Pathogenic
Dystonia 31, Dystonia 31
Health Risk
All Variants (7)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS747916174 | Health Risk | Likely pathogenic | Dystonia 31, AOPEP-related disorder, Dystonia 31 |
| RS776739942 | Health Risk | Likely pathogenic | Dystonia 31, Dystonia 31 |
| RS779393035 | Health Risk | Likely pathogenic | Dystonia 31, Clear cell carcinoma of kidney, Sarcoma |
| RS1043405296 | Health Risk | Pathogenic | Dystonia 31, Dystonia 31 |
| RS2540340757 | Health Risk | Pathogenic | Dystonia 31, Dystonia 31 |
| RS577000059 | Health Risk | Pathogenic | Dystonia 31, Dystonia 31 |
| RS778493729 | Health Risk | Pathogenic | Dystonia 31, Dystonia 31 |