Gene Summary: The enzyme encoded by this gene is classified as a thiolesterase and is responsible for the hydrolysis of S-lactoyl-glutathione to reduced glutathione and D-lactate. Two transcript variants encoding different isoforms have been found for this gene.General information above from NCBI
Tissue specificity: Expressed in liver and kidney.
Post-translational: Cleaved by CASP3 and CASP7. The potential C-terminal product released by CASP3 cleavage may inhibit the ERK signaling pathway through MAP2K2. May be ubiquitinated by STUB1.
Involvement in disease: Cerebellar ataxia, cayman type (ATCAY) [MIM:601238]: Found in a population isolate on Grand Cayman Island and causes a marked psychomotor retardation and prominent nonprogressive cerebellar dysfunction including nystagmus, intention tremor, dysarthria, and wide-based ataxic gait. Hypotonia is present from early childhood. Note=The disease is caused by mutations affecting the gene represented in this entry.
Sequence similarity: Belongs to the metallo-beta-lactamase superfamily. Glyoxalase II family.
General information above from UniProt
Mulley JC, et al. (1987). New regional localisations for HAGH and PGP on human chromosome 16. Hum Genet 74 (4): 423-4.
Rulli A, et al. (2001). Expression of glyoxalase I and II in normal and breast cancer tissues. Breast Cancer Res. Treat. 66 (1): 67-72.
Cordell PA, et al. (2004). The Human hydroxyacylglutathione hydrolase (HAGH) gene encodes both cytosolic and mitochondrial forms of glyoxalase II. J Biol Chem. 279 (27): 28653-61.