AOPEP

Chr 9AR

aminopeptidase O (putative)

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

NCBI Gene: 84909 ENSG00000148120 UniProt: Q8N6M6 OMIM: 619600

The protein is an aminopeptidase that cleaves amino acid residues from the N-terminus of peptides and proteins. Mutations cause dystonia 31, an autosomal recessive movement disorder. The gene shows minimal constraint against loss-of-function variants, which is consistent with the recessive inheritance pattern.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

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]

OMIM ResearchGenerating clinical summary…