Gene: AGBL1

Alternate names for this Gene: CCP4|FECD8

Gene 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.

Gene is located in Chromosome: 15

Location in Chromosome : 15q25.3

Description of this Gene: ATP/GTP binding protein like 1

Type of Gene: protein-coding

rs2469184 in AGBL1 gene and Activated Partial Thromboplastin Time measurement PMID 22703881 2012 Genetic associations for activated partial thromboplastin time and prothrombin time, their gene expression profiles, and risk of coronary artery disease.

rs62013859 in AGBL1 gene and Alzheimer's Disease PMID 26830138 2016 Family-based association analyses of imputed genotypes reveal genome-wide significant association of Alzheimer's disease with OSBPL6, PTPRG, and PDCL3.

rs10520638 in AGBL1 gene and Body mass index PMID 27416945 2016 Genome-Wide Association Study of the Modified Stumvoll Insulin Sensitivity Index Identifies BCL2 and FAM19A2 as Novel Insulin Sensitivity Loci.

rs1010419 in AGBL1 gene and Bronchopulmonary Dysplasia PMID 21836138 2011 Identification of SPOCK2 as a susceptibility gene for bronchopulmonary dysplasia.

rs10520638 in AGBL1 gene and Insulin Sensitivity Measurement PMID 27416945 2016 Genome-Wide Association Study of the Modified Stumvoll Insulin Sensitivity Index Identifies BCL2 and FAM19A2 as Novel Insulin Sensitivity Loci.

rs12438353 in AGBL1 gene and Ischemic stroke PMID 26089329 2015 Meta-Analysis of Genome-Wide Association Studies Identifies Genetic Risk Factors for Stroke in African Americans.

rs16977195 in AGBL1 gene and Narcolepsy PMID 19629137 2009 Genome-wide association database developed in the Japanese Integrated Database Project.

rs10520617 in AGBL1 gene and Serum albumin measurement PMID 23281178 2013 A genome-wide assessment of variability in human serum metabolism.

rs72752186 in AGBL1 gene and Triiodothyronine measurement PMID 30843173 2019 Genome-wide meta-analysis identifies novel loci associated with free triiodothyronine and thyroid-stimulating hormone.