catalog number :
MBS7229761
products type :
ELISA Kit
products full name :
Human 1 acylglycerol 3 phosphate O acyltransferase ABHD5 (ABHD5) ELISA Kit
products short name :
1 acylglycerol 3 phosphate O acyltransferase ABHD5 (ABHD5)
other names :
1-acylglycerol-3-phosphate O-acyltransferase ABHD5; 1-acylglycerol-3-phosphate O-acyltransferase ABHD5; 1-acylglycerol-3-phosphate O-acyltransferase ABHD5; lipid droplet-binding protein CGI-58; abhydrolase domain-containing protein 5; abhydrolase domain containing 5; Abhydrolase domain-containing protein 5; Lipid droplet-binding protein CGI-58
products gene name :
ABHD5
other gene names :
ABHD5; ABHD5; CDS; CGI58; IECN2; NCIE2; NCIE2; CGI-58
uniprot entry name :
ABHD5_HUMAN
storage stability :
Store all reagents at 2-8 degree C.
products categories :
Cardiovascular
ncbi mol weight :
39,096 Da
ncbi pathways :
CDP-diacylglycerol Biosynthesis I Pathway (142255); Hormone-sensitive Lipase (HSL)-mediated Triacylglycerol Hydrolysis Pathway (106121); Lipid Digestion, Mobilization, And Transport Pathway (106111); Metabolism Pathway (477135); Metabolism Of Lipids And Lipoproteins Pathway (160976); Phosphatidylglycerol Biosynthesis II (non-plastidic) Pathway (142264); Triacylglycerol Biosynthesis Pathway (142242)
ncbi summary :
The protein encoded by this gene belongs to a large family of proteins defined by an alpha/beta hydrolase fold, and contains three sequence motifs that correspond to a catalytic triad found in the esterase/lipase/thioesterase subfamily. It differs from other members of this subfamily in that its putative catalytic triad contains an asparagine instead of the serine residue. Mutations in this gene have been associated with Chanarin-Dorfman syndrome, a triglyceride storage disease with impaired long-chain fatty acid oxidation. [provided by RefSeq, Jul 2008]
uniprot summary :
ABHD5: a lysophosphatidic acid acyltransferase which functions in phosphatidic acid biosynthesis. May regulate the cellular storage of triacylglycerol through activation of the phospholipase PNPLA2. Involved in keratinocyte differentiation. Colocalized with PLIN and ADFP on the surface of lipid droplets. The localization is dependent upon the metabolic status of the adipocytes and the activity of PKA. Defects cause neutral lipid storage disease (NLSD), an autosomal recessive disorder characterized by the excessive accumulation of neutral lipids in multiple tissues, and Chanarin-Dorfman syndrome (CDS), a triglyceride storage disease with impaired long-chain fatty acid oxidation and icthyosis. CDS is an autosomal recessive inborn error of lipid metabolism with multisystemic accumulation of triglycerides although plasma concentrations are normal. Widely expressed in various tissues, including lymphocytes, liver, skeletal muscle and brain. Expressed by upper epidermal layers and dermal fibroblasts in skin, hepatocytes and neurons. Protein type: Lipase; EC 2.3.1.51; Transferase. Chromosomal Location of Human Ortholog: 3p21. Cellular Component: intracellular membrane-bound organelle; cytoplasm; lipid particle; nucleus; cytosol. Molecular Function: triacylglycerol lipase activity; lysophosphatidic acid acyltransferase activity; 1-acylglycerol-3-phosphate O-acyltransferase activity. Biological Process: triacylglycerol catabolic process; phosphatidic acid biosynthetic process; positive regulation of lipoprotein lipase activity; fatty acid metabolic process; cell differentiation. Disease: Chanarin-dorfman Syndrome