ABHD2

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Abhydrolase domain containing 2
Identifiers
Symbols ABHD2 ; HS1-2; LABH2; PHPS1-2
External IDs OMIM612196 MGI1914344 HomoloGene23121 GeneCards: ABHD2 Gene
RNA expression pattern
PBB GE ABHD2 205566 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 11057 54608
Ensembl ENSG00000140526 ENSMUSG00000039202
UniProt P08910 Q9QXM0
RefSeq (mRNA) NM_007011 NM_018811
RefSeq (protein) NP_008942 NP_061281
Location (UCSC) Chr 15:
89.63 – 89.75 Mb
Chr 7:
79.27 – 79.37 Mb
PubMed search [1] [2]

Abhydrolase domain-containing protein 2 is an enzyme that in humans is encoded by the ABHD2 gene.[1]

Function[edit]

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.[1]

Role in disease[edit]

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.[2] Increased expression has also been seen in the lungs of smokers.[3]

ABDH2 is also expressed in atherosclerotic lesions. Expression has been found to be higher in patients with unstable angina than in patients with stable angina.[4]

Up-regulation of ABDH2 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.[5]

References[edit]

  1. ^ a b "Entrez Gene: ABHD2 abhydrolase domain containing 2". 
  2. ^ Jin S, et al (March 2009). "Age-related pulmonary emphysema in mice lacking alpha/beta hydrolase domain containing 2 gene.". Biochem Biophys Res Commun. 380 (2): 419–24. doi:10.1016/j.bbrc.2009.01.098. 
  3. ^ Shahdoust M, et al (2013). "Finding genes discriminating smokers from non-smokers by applying a growing self-organizing clustering method to large airway epithelium cell microarray data.". Asian Pac J Cancer Prev. 2013;14(1):111-6. 14 (1): 111–6. PMID 23534707. 
  4. ^ Miyata K, et al (Jan 2008). "Elevated mature macrophage expression of human ABHD2 gene in vulnerable plaque.". Biochem Biophys Res Commun. 365 (2): 207–13. doi:10.1016/j.bbrc.2007.10.127. PMID 17980156. 
  5. ^ Ding X, Yang J and Wang S. (Mar–Apr 2011). "Antisense oligonucleotides targeting abhydrolase domain containing 2 block human hepatitis B virus propagation.". Oligonucleotides. 21 (2): 77–84. doi:10.1089/oli.2011.0280. 

Further reading[edit]