rs763189229
This variant is located in the AGBL1 gene.
▶ClinVar annotation
About AGBL1
Polyglutamylation is a reversible posttranslational modification catalyzed by polyglutamylases that results in the addition of glutamate side chains on the modified protein. This gene encodes a glutamate decarboxylase that catalyzes the deglutamylation of polyglutamylated proteins. Mutations in this gene result in dominant late-onset Fuchs corneal dystrophy. [provided by RefSeq, Nov 2013]
View all AGBL1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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