Text Size:AAA

ABHD5  ELISA Kit

All ABHD5 Reagents

ABHD5

ABHD5 ELISA Kit

Browse ABHD5 Products by

ABHD5 Related Area

ABHD5 Related Pathways

    ABHD5 Related Protein, Antibody, cDNA Gene, and ELISA Kits

    ABHD5 Related Protein, Antibody, cDNA Gene, and ELISA Kits

    Featured Reagent Products

    ABHD5 Summary & Protein Information

    ABHD5 Background

    Catalytic activity: Acyl-CoA + 1-acyl-sn-glycerol 3-phosphate = CoA + 1,2-diacyl-sn-glycerol 3-phosphate. {ECO:0000269|PubMed:18606822}.
    Subunit structure: Interacts with ADRP, PLIN and PNPLA2. Interacts with PLIN5; promotes interaction with PNPLA2 (By similarity). {ECO:0000250}.
    Domain: The HXXXXD motif is essential for acyltransferase activity and may constitute the binding site for the phosphate moiety of the glycerol-3-phosphate. {ECO:0000250}.
    Subcellular location: Cytoplasm {ECO:0000269|PubMed:18832586}. Lipid droplet {ECO:0000250}. Note=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 (By similarity). {ECO:0000250}.
    Tissue specificity: 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). {ECO:0000269|PubMed:11590543, ECO:0000269|PubMed:18832586}.
    Developmental stage: Detected in fetal epidermis from 49 to 135 days estimated gestational age (at protein level). {ECO:0000269|PubMed:18832586}.
    Induction: Up-regulated upon keratinocyte differentiation (at protein level). {ECO:0000269|PubMed:18832586}.
    Involvement in disease: DISEASE: Chanarin-Dorfman syndrome (CDS) [MIM:275630]: 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. {ECO:0000269|PubMed:11590543, ECO:0000269|PubMed:17495960}. Note=The disease is caused by mutations affecting the gene represented in this entry.
    Sequence similarity: Belongs to the peptidase S33 family. ABHD4/ABHD5 subfamily. {ECO:0000305}.
    General information above from UniProt

    ABHD5 Alternative Name

    CDS,CGI58,IECN2,NCIE2, [homo-sapiens]
    CDS,IECN5,NCIE2,CGI-58,1300003D03Rik,2010002J10Rik, [mus-musculus]

    ABHD5 Related Studies

    Please note: All products are "FOR RESEARCH USE ONLY AND ARE NOT INTENDED FOR DIAGNOSTIC OR THERAPEUTIC USE"