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ABHD5  抗體

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ABHD5 相關信號通路

ABHD5 相關蛋白、抗體、cDNA基因、ELISA試劑盒

ABHD5 相關蛋白、抗體、cDNA基因、ELISA試劑盒

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ABHD5 概述&蛋白信息

ABHD5 研究背景

催化活性: Acyl-CoA + 1-acyl-sn-glycerol 3-phosphate = CoA + 1,2-diacyl-sn-glycerol 3-phosphate.
亞單位結構: Interacts with ADRP, PLIN and PNPLA2 (By similarity).
結構域: The HXXXXD motif is essential for acyltransferase activity and may constitute the binding site for the phosphate moiety of the glycerol-3-phosphate (By similarity).
亞細胞定位: Cytoplasm. Lipid droplet (By similarity). 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).
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).
發育階段: Detected in fetal epidermis from 49 to 135 days estimated gestational age (at protein level).
誘導: Up-regulated upon keratinocyte differentiation (at protein level).
相關疾病 : 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. Note=The disease is caused by mutations affecting the gene represented in this entry.
相似的序列: Belongs to the peptidase S33 family. ABHD4/ABHD5 subfamily.
General information above from UniProt

ABHD5 別稱

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

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