Entity Details

Primary name AGBL1
Entity type gene
Source Source Link

Details

PrimaryID123624
RefseqGeneNG_033836
SymbolAGBL1
NameAGBL carboxypeptidase 1
Chromosome15
Location15q25.3
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate2001-11-29
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsCBPC4_HUMAN

GO terms

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GOName
GO:0004181 metallocarboxypeptidase activity
GO:0005829 cytosol
GO:0008270 zinc ion binding
GO:0015631 tubulin binding
GO:0035609 C-terminal protein deglutamylation
GO:0035610 protein side chain deglutamylation

Diseases

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Disease IDSourceNameDescription
615523 OMIMCorneal dystrophy, Fuchs endothelial, 8 (FECD8)A corneal disease caused by loss of endothelium of the central cornea. It is characterized by focal wart-like guttata that arise from Descemet membrane and develop in the central cornea, epithelial blisters, reduced vision and pain. Descemet membrane is thickened by abnormal collagenous deposition. The disease is caused by variants affecting the gene represented in this entry.

Interactions

6 interactions