rs2465437712
This variant is located in the AGBL5 gene.
▶ClinVar annotation
Likely Benign★☆☆☆
1 submitter1 publicationAbout AGBL5
This gene encodes a metallocarboxypeptidase involved in protein deglutamylation and a member of the peptidase M14 family of proteins. The encoded protein has been described as a "dual-functional" deglutamylase that can remove glutamate residues from both carboxyl termini and side chains of protein substrates. This deglutamylase activity may be important in antiviral immunity. Mutations in this gene are associated with retinitis pigmentosa. [provided by RefSeq, Jul 2016]
View all AGBL5 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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