Gene Symbol | AGBL1 |
Entrez Gene ID | 123624 |
Full Name | ATP/GTP binding protein like 1 |
Synonyms | CCP4,FECD8 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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]. |
Disorder MIM: | |
Disorder Html: | Corneal dystrophy, Fuchs endothelial, 8, 615523 (3) |