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DYT31

Chr 9AR

aminopeptidase O (putative)

Also known as: AP-O, APO, C90RF3, C9orf3, DYT31, ONPEP

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]

OMIMResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Dystonia 31MIM #619565
AR

Clinical highlights

Gene–disease validity
Not independently assessedOMIM lists Dystonia 31; no ClinGen or GenCC tier
0
Active trials
2
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
—
LOEUF
—
Mechanism
Some data sources returned errors (2)

ensembl: Error: Ensembl fetch failed: 400 for /lookup/symbol/homo_sapiens/DYT31?content-type=application/json

gnomad: Error: Gene not found

Population Genetics & Constraint

Constraint data not available from gnomAD.

ClinVar

No ClinVar data available.

Protein Context — Lollipop Plot

DYT31 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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