abhydrolase domain-containing protein 5 (ABHD5, NCIE2, CGI-58)

Function

• interacts with ADRP & PLIN

Structure

• belongs to the peptidase S33 family

Compartment

• cytoplasm, lipid droplet
• colocalized with PLIN & ADRP on surface of lipid droplets
• localization dependent upon metabolic status of adipocytes & activity of PKA

Expression

• widely expressed in various tissues, including skin, l ymphocytes, liver, skeletal muscle, brain

Pathology

• defects in ABHD5 are the cause of Dorfman-Chanarin syndrome

More general terms

• abhydrolase domain-containing protein (ABHD)

Database

• OMIM: https://mirror.omim.org/entry/275630
• OMIM: https://mirror.omim.org/entry/604780
• UniProt: http://www.uniprot.org/uniprot/Q8WTS1.html