rs776739942

This variant is located in the AOPEP gene.

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ClinVar annotation

Likely Pathogenic★★★☆

2 submitters1 publication

Dystonia 31

About AOPEP

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]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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