AGBL5 Chromosome 2
AGBL carboxypeptidase 5
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What This Gene Does
This gene encodes a metallocarboxypeptidase involved in protein deglutamylation and a member of the peptidase M14 family of proteins. The encoded protein has been described as a "dual-functional" deglutamylase that can remove glutamate residues from both carboxyl termini and side chains of protein substrates. This deglutamylase activity may be important in antiviral immunity. Mutations in this gene are associated with retinitis pigmentosa. [provided by RefSeq, Jul 2016]
Gene Info
Gene Group
M14 carboxypeptidases
Locus Type
gene with protein product
Location
2p23.3
Ensembl
ENSG00000084693
Associated Conditions (5)
Retinal dystrophy
Inborn genetic diseases
Retinitis pigmentosa 75
Autosomal recessive retinitis pigmentosa
Retinitis pigmentosa
Key Variants
RS1313115089
Conflicting classifications of pathogenicity
Retinal dystrophy, Retinal dystrophy
Health Risk
RS142859717
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS201194808
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS541509761
Conflicting classifications of pathogenicity
Retinal dystrophy, Retinal dystrophy
Health Risk
RS771617411
Conflicting classifications of pathogenicity
Retinal dystrophy, Retinal dystrophy
Health Risk
RS772072440
Conflicting classifications of pathogenicity
Retinal dystrophy, Retinal dystrophy
Health Risk
RS879253769
Conflicting classifications of pathogenicity
Retinitis pigmentosa 75, Retinitis pigmentosa 75
Health Risk
RS1215478084
Likely pathogenic
Health Risk
RS1271339736
Likely pathogenic
Retinitis pigmentosa 75, Retinitis pigmentosa 75
Health Risk
RS1337804475
Likely pathogenic
Health Risk
RS1668280406
Likely pathogenic
Retinitis pigmentosa 75, Retinitis pigmentosa 75
Health Risk
RS1668402514
Likely pathogenic
Retinal dystrophy, Retinal dystrophy
Health Risk
All Variants (43)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1313115089 | Health Risk | Conflicting classifications of pathogenicity | Retinal dystrophy, Retinal dystrophy |
| RS142859717 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS201194808 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS541509761 | Health Risk | Conflicting classifications of pathogenicity | Retinal dystrophy, Retinal dystrophy |
| RS771617411 | Health Risk | Conflicting classifications of pathogenicity | Retinal dystrophy, Retinal dystrophy |
| RS772072440 | Health Risk | Conflicting classifications of pathogenicity | Retinal dystrophy, Retinal dystrophy |
| RS879253769 | Health Risk | Conflicting classifications of pathogenicity | Retinitis pigmentosa 75, Retinitis pigmentosa 75 |
| RS1215478084 | Health Risk | Likely pathogenic | — |
| RS1271339736 | Health Risk | Likely pathogenic | Retinitis pigmentosa 75, Retinitis pigmentosa 75 |
| RS1337804475 | Health Risk | Likely pathogenic | — |
| RS1668280406 | Health Risk | Likely pathogenic | Retinitis pigmentosa 75, Retinitis pigmentosa 75 |
| RS1668402514 | Health Risk | Likely pathogenic | Retinal dystrophy, Retinal dystrophy |
| RS1668413357 | Health Risk | Likely pathogenic | Autosomal recessive retinitis pigmentosa, Retinitis pigmentosa 75, Autosomal recessive retinitis pigmentosa |
| RS2465441256 | Health Risk | Likely pathogenic | — |
| RS2465472339 | Health Risk | Likely pathogenic | Retinitis pigmentosa 75, Retinitis pigmentosa 75 |
| RS2465473183 | Health Risk | Likely pathogenic | — |
| RS2465479726 | Health Risk | Likely pathogenic | Retinal dystrophy, Retinal dystrophy |
| RS746563151 | Health Risk | Likely pathogenic | — |
| RS766215295 | Health Risk | Likely pathogenic | — |
| RS775833997 | Health Risk | Likely pathogenic | — |
| RS1209104357 | Health Risk | Pathogenic | — |
| RS1285501658 | Health Risk | Pathogenic | Retinitis pigmentosa, Retinitis pigmentosa |
| RS1286076992 | Health Risk | Pathogenic | — |
| RS1339489536 | Health Risk | Pathogenic | — |
| RS1433176317 | Health Risk | Pathogenic | — |
| RS1452755931 | Health Risk | Pathogenic | — |
| RS1464584026 | Health Risk | Pathogenic | — |
| RS1651267435 | Health Risk | Pathogenic | — |
| RS1668306278 | Health Risk | Pathogenic | — |
| RS1668345404 | Health Risk | Pathogenic | — |
| RS1668490262 | Health Risk | Pathogenic | — |
| RS1668492338 | Health Risk | Pathogenic | — |
| RS2148269372 | Health Risk | Pathogenic | — |
| RS2148274117 | Health Risk | Pathogenic | — |
| RS2465441808 | Health Risk | Pathogenic | — |
| RS2465465952 | Health Risk | Pathogenic | — |
| RS2465472183 | Health Risk | Pathogenic | — |
| RS2465492591 | Health Risk | Pathogenic | — |
| RS534435290 | Health Risk | Pathogenic | — |
| RS769651565 | Health Risk | Pathogenic | — |
| RS772873071 | Health Risk | Pathogenic | — |
| RS781641821 | Health Risk | Pathogenic | — |
| RS879253768 | Health Risk | Pathogenic | Retinitis pigmentosa 75, Retinitis pigmentosa 75 |