• Gene id: 60526

Gene Summary

• Gene Symbol: LDAH   Gene   UCSC   Ensembl
• Aliases: C2orf43, hLDAH
• Gene name: lipid droplet associated hydrolase
• Alternate names: lipid droplet-associated hydrolase, UPF0554 protein C2orf43, lipid droplet-associated serine hydrolase,
• Gene location: 2p24.1 (20823138: 20682488)     Exons: 10     NC_000002.12
• OMIM: 602430

Protein Summary

• Protein general information: Q9H6V9  
  • Name: Lipid droplet associated hydrolase (EC 3.1.1. ) (Lipid droplet associated serine hydrolase) (hLDAH)
  • Length: 325  
  • Mass: 37319
  • Tissue specificity: Present in macrophage-rich areas in atherosclerotic lesionsv(at protein level). {ECO
• Sequence:

  MDSELKEEIPVHEEFILCGGAETQVLKCGPWTDLFHDQSVKRPKLLIFIIPGNPGFSAFYVPFAKALYSLTNRRF
  PVWTISHAGHALAPKDKKILTTSEDSNAQEIKDIYGLNGQIEHKLAFLRTHVPKDMKLVLIGHSIGSYFTLQMLK
  RVPELPVIRAFLLFPTIERMSESPNGRIATPLLCWFRYVLYVTGYLLLKPCPETIKSLLIRRGLQVMNLENEFSP
  LNILEPFCLANAAYLGGQEMMEVVKRDDETIKEHLCKLTFYYGTIDPWCPKEYYEDIKKDFPEGDIRLCEKNIPH
  AFITHFNQEMADMIADSLKDDLSKM

• Structural information:
  • Interpro: IPR029058  IPR019363  
  • Prosite: PS00120
  • STRING: ENSP00000237822
• Other Databases: GeneCards:  LDAH  Malacards:  LDAH

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005811	lipid droplet	IBA	cellular component
GO:0019915	lipid storage	IBA	biological process
GO:0005811	lipid droplet	ISS	cellular component
GO:0016298	lipase activity	ISS	molecular function
GO:0016787	hydrolase activity	IEA	molecular function
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0005811	lipid droplet	IEA	cellular component
GO:0016042	lipid catabolic process	IEA	biological process
GO:0006629	lipid metabolic process	IEA	biological process
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0005811	lipid droplet	IEA	cellular component

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq