Anti-Abhd5/CGI-58 抗体 (ab59488)

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.

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 (at protein level).

Defects in ABHD5 are the cause of Chanarin-Dorfman syndrome (CDS) [MIM:275630]; also called triglyceride storage disease with impaired long-chain fatty acid oxidation or neutral lipid storage disease with ichthyosis. CDS is an autosomal recessive inborn error of lipid metabolism with multisystemic accumulation of triglycerides although plasma concentrations are normal. Clinical characteristics are congenital generalized ichthyosis, vacuolated leukocytes, hepatomegaly, myopathy, cataracts, neurosensory hearing loss and developmental delay. The disorder presents at birth with generalized, fine, white scaling of the skin and a variable degree of erythema resembling non-bullous congenital ichthyosiform erythroderma.

Belongs to the peptidase S33 family. ABHD4/ABHD5 subfamily.

Detected in fetal epidermis from 49 to 135 days estimated gestational age (at protein level).

The HXXXXD motif is essential for acyltransferase activity and may constitute the binding site for the phosphate moiety of the glycerol-3-phosphate.

Cytoplasm. Lipid droplet. Colocalized with PLIN and ADRP on the surface of lipid droplets. The localization is dependent upon the metabolic status of the adipocytes and the activity of PKA.