AGBL2 Chromosome 11

AGBL carboxypeptidase 2
1 variant 1 Health Risk

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What This Gene Does
Predicted to enable metallocarboxypeptidase activity and tubulin binding activity. Predicted to be involved in protein side chain deglutamylation. Located in centriole and ciliary basal body. [provided by Alliance of Genome Resources, Jul 2025]
Gene Info
Gene Group
M14 carboxypeptidases
Locus Type
gene with protein product
Location
11p11.2
Ensembl
ENSG00000165923
Associated Conditions (2)
Abnormal brain morphology
Epilepsy
Key Variants
All Variants (1)
RSID Category Clinical Significance Conditions
RS764666741 Health Risk Conflicting classifications of pathogenicity Abnormal brain morphology, Epilepsy, Abnormal brain morphology
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