AGBL1 Chromosome 15
AGBL carboxypeptidase 1
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What This Gene Does
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]
Gene Info
Gene Group
"M14 carboxypeptidases|Armadillo like helical domain containing"
Locus Type
gene with protein product
Location
15q25.3
Ensembl
ENSG00000273540
Associated Conditions (4)
Corneal dystrophy
Fuchs endothelial
8
Fuchs' endothelial dystrophy
Key Variants
All Variants (1)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS181958589 | Health Risk | Conflicting classifications of pathogenicity | Corneal dystrophy, Fuchs endothelial, 8 |