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    ABHD5 サマリー & タンパク質情報

    ABHD5 背景

    触媒活性: Acyl-CoA + 1-acyl-sn-glycerol 3-phosphate = CoA + 1,2-diacyl-sn-glycerol 3-phosphate. {ECO:0000269|PubMed:18606822}.
    サブユニット構造: Interacts with ADRP, PLIN and PNPLA2. Interacts with PLIN5; promotes interaction with PNPLA2 (By similarity). {ECO:0000250}.
    ドメイン: 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}.
    細胞内位置: 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}.
    組織特異性: 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}.
    発生段階: Detected in fetal epidermis from 49 to 135 days estimated gestational age (at protein level). {ECO:0000269|PubMed:18832586}.
    誘導: Up-regulated upon keratinocyte differentiation (at protein level). {ECO:0000269|PubMed:18832586}.
    疾患関連性: 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.
    シーケンスの類似性: Belongs to the peptidase S33 family. ABHD4/ABHD5 subfamily. {ECO:0000305}.
    General information above from UniProt

    ABHD5 代替名

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

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