AGBL1 AGBL carboxypeptidase 1
Gene ID: 123624, updated on 5-Mar-2024Gene type: protein coding
Also known as: CCP4; FECD8
- See all available tests in GTR for this gene
- Go to complete Gene record for AGBL1
- Go to Variation Viewer for AGBL1 variants
Summary
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Common variants at the MHC locus and at chromosome 16q24.1 predispose to Barrett's esophagus. GeneReviews: Not available | |
| Corneal dystrophy, Fuchs endothelial, 8 | See labs |
| Evidence for shared genetic risk between methamphetamine-induced psychosis and schizophrenia. GeneReviews: Not available | |
| Genetic associations for activated partial thromboplastin time and prothrombin time, their gene expression profiles, and risk of coronary artery disease. GeneReviews: Not available | |
| Genetics of coronary artery calcification among African Americans, a meta-analysis. GeneReviews: Not available | |
| Genome-wide association analyses suggest NELL1 influences adverse metabolic response to HCTZ in African Americans. GeneReviews: Not available | |
| Genome-wide association study does not reveal major genetic determinants for anti-cytomegalovirus antibody response. GeneReviews: Not available | |
| Genome-wide contribution of genotype by environment interaction to variation of diabetes-related traits. GeneReviews: Not available | |
| Genomewide association for schizophrenia in the CATIE study: results of stage 1. GeneReviews: Not available | |
| Meta-analysis of genome-wide association for migraine in six population-based European cohorts. GeneReviews: Not available | |
| Pharmacogenomic study of side-effects for antidepressant treatment options in STAR*D. GeneReviews: Not available |
Genomic context
- Location:
- 15q25.3
- Sequence:
- Chromosome: 15; NC_000015.10 (86079620..87031476)
- Total number of exons:
- 29
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for AGBL1 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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