Recombinant Human Abhd5/CGI-58 Protein

Recombinant Human Abhd5/CGI-58 Protein

Cat. No.: DPP-001249

Size: 50 µg Size: 100 µg Size: Costomer Size
Product Overview
Species Human
Expression System Wheat germ
Format Liquid
Purity ≥97% by SDS-PAGE
Nature Recombinant
Target Information
Gene Name ABHD5
UniProt No. Q8WTS1
Gene ID 51099
Molecular Weight 64 kDa including tags
Alternative Names 1-acylglycerol-3-phosphate O-acyltransferase ABHD5; ABHD5; ABHD5_HUMAN; Abhydrolase domain containing 5; Abhydrolase domain containing protein 5; Abhydrolase domain-containing protein 5; CDS; CGI 58; CGI58; CGI58 protein; IECN2; Lipid droplet-binding protein CGI-58; MGC8731; NCIE2
Function 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.
Involvement In Disease Defects in ABHD5 are the cause of Chanarin-Dorfman syndrome (CDS); 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.
Cellular Localization 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.
Protein Length Full length protein
Sequence MAAEEEEVDSADTGERSGWLTGWLPTWCPTSISHLKEAEEKMLKCVPCTY KKEPVRISNGNKIWTLKFSHNISNKTPLVLLHGFGGGLGLWALNFGDLCT NRPVYAFDLLGFGRSSRPRFDSDAEEVENQFVESIEEWRCALGLDKMILL GHNLGGFLAAAYSLKYPSRVNHLILVEPWGFPERPDLADQDRPIPVWIRA LGAALTPFNPLAGLRIAGPFGLSLVQRLRPDFKRKYSSMFEDDTVTEYIY HCNVQTPSGETAFKNMTIPYGWAKRPMLQRIGKMHPDIPVSVIFGARSCI DGNSGTSIQSLRPHSYVKTIAILGAGHYVYADQPEEFNQKVKEICDTVD,Belongs to the peptidase S33 family. ABHD4/ABHD5 subfamily.
Shipping & Storage
Shipping Shipped on dry ice.
Storage Store at +4°C short term (1-2 weeks). Upon delivery aliquot. Store at -20°C or -80°C. Avoid freeze / thaw cycle.
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