• Gene id: 3029

Gene Summary

• Gene Symbol: HAGH   Gene   UCSC   Ensembl
• Aliases: GLO2, GLX2, GLXII, HAGH1
• Gene name: hydroxyacylglutathione hydrolase
• Alternate names: hydroxyacylglutathione hydrolase, mitochondrial, glyoxalase II, hydroxyacylglutathione hydroxylase,
• Gene location: 16p13.3 (1827193: 1807628)     Exons: 10     NC_000016.10
• Gene summary(Entrez): 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. Three transcript variants encoding different isoforms have been found for this gene. [pro

Protein Summary

• Protein general information: Q16775  
  • Name: Hydroxyacylglutathione hydrolase, mitochondrial (EC 3.1.2.6) (Glyoxalase II) (Glx II)
  • Length: 308  
  • Mass: 33806
  • Tissue specificity: Expressed in liver and kidney. {ECO
• Sequence:

  MVVGRGLLGRRSLAALGAACARRGLGPALLGVFCHTDLRKNLTVDEGTMKVEVLPALTDNYMYLVIDDETKEAAI
  VDPVQPQKVVDAARKHGVKLTTVLTTHHHWDHAGGNEKLVKLESGLKVYGGDDRIGALTHKITHLSTLQVGSLNV
  KCLATPCHTSGHICYFVSKPGGSEPPAVFTGDTLFVAGCGKFYEGTADEMCKALLEVLGRLPPDTRVYCGHEYTI
  NNLKFARHVEPGNAAIREKLAWAKEKYSIGEPTVPSTLAEEFTYNPFMRVREKTVQQHAGETDPVTTMRAVRREK
  DQFKMPRD

• Structural information:
  • Interpro: IPR035680  IPR032282  IPR017782  IPR001279  IPR036866  
  • CDD: cd07723
  • PDB: 1QH3 1QH5 2F50
  • PDBsum: 1QH3 1QH5 2F50
  • STRING: ENSP00000380514
• Other Databases: GeneCards:  HAGH  Malacards:  HAGH

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0004416	hydroxyacylglutathione hydrolase activity	IEA	molecular function
GO:0019243	methylglyoxal catabolic process to D-lactate via S-lactoyl-glutathione	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005739	mitochondrion	IEA	cellular component
GO:0004416	hydroxyacylglutathione hydrolase activity	IEA	molecular function
GO:0006090	pyruvate metabolic process	TAS	biological process
GO:0005829	cytosol	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005759	mitochondrial matrix	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0004416	hydroxyacylglutathione hydrolase activity	IDA	molecular function
GO:0006750	glutathione biosynthetic process	IDA	biological process

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00620	Pyruvate metabolism

Diseases

Associated diseases	References
Spermatogenesis defects	MIK: 9434774
Important for regulation of spermatogenesis	MIK: 9434774
Aberrant CpGs in Low Motility Sperm	MIK: 21674046

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881