Entrez 11057 | Ensembl ENSG00000140526 | |
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Aliases ABHD2, HS1-2, LABH2, PHPS1-2, abhydrolase domain containing 2 External IDs MGI: 1914344 HomoloGene: 23121 GeneCards: ABHD2 | ||
Abhydrolase domain-containing protein 2 is an enzyme that in humans is encoded by the ABHD2 gene.
Contents
Function
This gene encodes a protein containing an alpha/beta hydrolase fold, which is a catalytic domain found in a very wide range of enzymes. The function of this protein has not been determined. Alternative splicing of this gene results in two transcript variants encoding the same protein.
Role in disease
The ABHD2 gene is down regulated in the lungs of people with Emphysema. Analysis of ABHD2 deficiency in mice found a decrease in phosphatidylcholine levels. The mice developed emphysema which was attributed to an increase in macrophage infiltration, increased inflammatory cytokine levels, an imbalance of protease/anti-protease, and an increase in cell death. This research suggests that ABHD2 is important in maintaining the structural integrity of the lungs, and that disruption of phospholipid metabolism in the alveoli may lead to the development of emphysema. Increased expression has also been seen in the lungs of smokers.
ABHD2 is also expressed in atherosclerotic lesions. Expression has been found to be higher in patients with unstable angina than in patients with stable angina.
Up-regulation of ABHD2 has been observed in cells transfected with Hepatitis B virus (HBV) DNA (HepG2.2.15 cells). Expression was down-regulated by the drug lamivudine, used in the treatment of hepatitis B. It has been suggested that ABHD2 has an important role in HBV propagation and could be a potential drug target in the treatment of hepatitis B.