AGBL1

Chr 15AD

AGBL carboxypeptidase 1

Also known as: CCP4, FECD8

NCBI Gene: 123624 ENSG00000273540 UniProt: Q96MI9 OMIM: 615496

AGBL1 encodes a metallocarboxypeptidase that removes polyglutamate side chains from tubulin and other proteins through deglutamylation. Mutations cause autosomal dominant Fuchs endothelial corneal dystrophy with late-onset presentation. The gene shows very low constraint to loss-of-function variation (pLI near zero), suggesting the disease mechanism may not involve simple protein loss.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

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]

OMIM ResearchGenerating clinical summary…

ADLOEUF 1.141 OMIM phenotype

Clinical Summary— AGBL1

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Population Constraint (gnomAD)

Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.

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