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    ABHD5 요약 및 단백질 정보

    ABHD5 배경

    촉매 활성: Acyl-CoA + 1-acyl-sn-glycerol 3-phosphate = CoA + 1,2-diacyl-sn-glycerol 3-phosphate. {ECO:0000269|PubMed:18606822}.
    하부단위 구조: Interacts with ADRP, PLIN and PNPLA2. Interacts with PLIN5; promotes interaction with PNPLA2 (By similarity). {ECO:0000250}.
    도메인: 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}.
    세포하 위치: 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}.
    조직 특이성: 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}.
    발생 단계: Detected in fetal epidermis from 49 to 135 days estimated gestational age (at protein level). {ECO:0000269|PubMed:18832586}.
    유도: Up-regulated upon keratinocyte differentiation (at protein level). {ECO:0000269|PubMed:18832586}.
    질병과의 관련성: 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.
    염기서열 유사성: Belongs to the peptidase S33 family. ABHD4/ABHD5 subfamily. {ECO:0000305}.
    General information above from UniProt

    ABHD5 대체 이름

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

    ABHD5 관련 연구

    주의 : 모든 제품은 "연구 목적만을 위한 것이며 진단이나 치료에 사용하도록 의도되지 않았습니다".