PMID-sentid Pub_year Sent_text comp_official_name comp_offsetprotein_name organism prot_offset 33194920-0 2020 Late-Onset Carnitine-Acylcarnitine Translocase Deficiency With SLC25A20 c.199-10T>G Variation: Case Report and Pathologic Analysis of Liver Biopsy. Carnitine 11-20 solute carrier family 25 member 20 Homo sapiens 63-71 33194920-1 2020 Introduction: Carnitine-acylcarnitine translocase deficiency (CACTD) is a rare and life-threatening autosomal recessive disorder of mitochondrial fatty acid oxidation caused by variation of the Solute carrier family 25 member 20 (SLC25A20) gene. Carnitine 14-23 solute carrier family 25 member 20 Homo sapiens 194-228 33194920-1 2020 Introduction: Carnitine-acylcarnitine translocase deficiency (CACTD) is a rare and life-threatening autosomal recessive disorder of mitochondrial fatty acid oxidation caused by variation of the Solute carrier family 25 member 20 (SLC25A20) gene. Carnitine 14-23 solute carrier family 25 member 20 Homo sapiens 230-238 28132459-4 2016 Carnitine is necessary for transfer of fatty acids to mitochondria: in functioning of the so-called carnitine shuttle an essential role is fulfilled by palmitoylcarnitine transferase 1, carnitine carrier (SLC25A20) in the inner mitochondrial membrane and palmitoylcarnitine transferase 2. Carnitine 100-109 solute carrier family 25 member 20 Homo sapiens 205-213 30401918-7 2019 Although L-carnitine therapy for VLCAD/TFP deficiency has been controversial, supplementation with L-carnitine may be accepted for CPT2/CACT and multiple acyl-CoA dehydrogenase deficiencies. Carnitine 99-110 solute carrier family 25 member 20 Homo sapiens 136-140 32337051-1 2020 Carnitine-acylcarnitine translocase (CACT) deficiency is a fatty acid ss-oxidation disorder of the carnitine shuttle in mitochondria, with a high mortality rate in childhood. Carnitine 14-23 solute carrier family 25 member 20 Homo sapiens 37-41 31108048-1 2019 Carnitine-acylcarnitine translocase deficiency (CACTD) is a rare autosomal recessive disorder of mitochondrial fatty acid oxidation that occurs due to mutations in the SLC25A20 gene. Carnitine 0-9 solute carrier family 25 member 20 Homo sapiens 168-176 28132459-4 2016 Carnitine is necessary for transfer of fatty acids to mitochondria: in functioning of the so-called carnitine shuttle an essential role is fulfilled by palmitoylcarnitine transferase 1, carnitine carrier (SLC25A20) in the inner mitochondrial membrane and palmitoylcarnitine transferase 2. Carnitine 0-9 solute carrier family 25 member 20 Homo sapiens 205-213 28132459-4 2016 Carnitine is necessary for transfer of fatty acids to mitochondria: in functioning of the so-called carnitine shuttle an essential role is fulfilled by palmitoylcarnitine transferase 1, carnitine carrier (SLC25A20) in the inner mitochondrial membrane and palmitoylcarnitine transferase 2. Carnitine 161-170 solute carrier family 25 member 20 Homo sapiens 205-213 23948593-4 2013 METHODS: The effect of GSH and GSSG on the [(3)H]-carnitine/carnitine antiport catalyzed by the CAC in proteoliposomes has been studied. Carnitine 50-59 solute carrier family 25 member 20 Homo sapiens 96-99 22020112-6 2011 The functional data indicate that CAC plays the important function of catalyzing transport of acylcarnitines into the mitochondria in exchange for intramitochondrial free carnitine. Carnitine 98-107 solute carrier family 25 member 20 Homo sapiens 34-37 22020112-8 2011 The essential role of the transporter in cell metabolism is demonstrated by the fact that alterations of the human gene SLC25A20 coding for CAC are associated with a severe disease known as carnitine carrier deficiency. Carnitine 190-199 solute carrier family 25 member 20 Homo sapiens 120-128 22020112-8 2011 The essential role of the transporter in cell metabolism is demonstrated by the fact that alterations of the human gene SLC25A20 coding for CAC are associated with a severe disease known as carnitine carrier deficiency. Carnitine 190-199 solute carrier family 25 member 20 Homo sapiens 140-143 22020112-10 2011 Until now 35 different mutations of CAC gene have been identified in carnitine carrier deficient patients. Carnitine 69-78 solute carrier family 25 member 20 Homo sapiens 36-39 10697964-1 2000 Carnitine/acylcarnitine translocase (CACT) transports acylcarnitines into mitochondria in exchange for free carnitine, and is therefore an essential component within the fatty acid beta-oxidation pathway. Carnitine 14-23 solute carrier family 25 member 20 Homo sapiens 37-41 18307102-7 2008 Results obtained from amino acid substitutions of residues Arg275, Asn280 and Phe284 of human CAC together with structural analysis using molecular modelling of the carrier suggest that R275, N280 and F284 are involved in substrate binding during acylcarnitine/carnitine translocation. Carnitine 251-260 solute carrier family 25 member 20 Homo sapiens 94-97 16602102-2 2006 This transfer requires enzymes and transporters that accumulate carnitine within the cell (OCTN2 carnitine transporter), conjugate it with long chain fatty acids (carnitine palmitoyl transferase 1, CPT1), transfer the acylcarnitine across the inner plasma membrane (carnitine-acylcarnitine translocase, CACT), and conjugate the fatty acid back to Coenzyme A for subsequent beta oxidation (carnitine palmitoyl transferase 2, CPT2). Carnitine 64-73 solute carrier family 25 member 20 Homo sapiens 303-307 16602102-13 2006 Treatment for deficiency of CPT1, CPT2, and CACT consists in a low-fat diet supplemented with medium chain triglycerides that can be metabolized by mitochondria independently from carnitine, carnitine supplements, and avoidance of fasting and sustained exercise. Carnitine 180-189 solute carrier family 25 member 20 Homo sapiens 44-48 16602102-13 2006 Treatment for deficiency of CPT1, CPT2, and CACT consists in a low-fat diet supplemented with medium chain triglycerides that can be metabolized by mitochondria independently from carnitine, carnitine supplements, and avoidance of fasting and sustained exercise. Carnitine 191-200 solute carrier family 25 member 20 Homo sapiens 44-48 15363639-1 2004 The carnitine-acylcarnitine translocase (CACT) is one of the components of the carnitine cycle. Carnitine 4-13 solute carrier family 25 member 20 Homo sapiens 41-45 15363639-4 2004 Metabolic consequences of a defective CACT are hypoketotic hypoglycaemia under fasting conditions, hyperammonemia, elevated creatine kinase and transaminases, dicarboxylic aciduria, very low free carnitine and an abnormal acylcarnitine profile with marked elevation of the long-chain acylcarnitines. Carnitine 196-205 solute carrier family 25 member 20 Homo sapiens 38-42 12882971-2 2003 In this system, the fatty acid moiety of acyl-CoA is transferred enzymatically to carnitine, and the resultant product, acylcarnitine, is imported into the mitochondrial matrix through a transporter named carnitine-acylcarnitine translocase (CACT). Carnitine 82-91 solute carrier family 25 member 20 Homo sapiens 205-240 12882971-2 2003 In this system, the fatty acid moiety of acyl-CoA is transferred enzymatically to carnitine, and the resultant product, acylcarnitine, is imported into the mitochondrial matrix through a transporter named carnitine-acylcarnitine translocase (CACT). Carnitine 82-91 solute carrier family 25 member 20 Homo sapiens 242-246 11826365-1 2001 Carnitine-acylcarnitine translocase (CACT) deficiency is an inherited defect of the co-transport of free and esterified carnitine across the inner mitochondrial membrane. Carnitine 14-23 solute carrier family 25 member 20 Homo sapiens 37-41 21130740-1 2011 This study investigates the transcriptional role of the human mitochondrial carnitine/acylcarnitine carrier (CAC) proximal promoter. Carnitine 76-85 solute carrier family 25 member 20 Homo sapiens 109-112 19748481-1 2009 Solute carrier family 25, member 20 (SLC25A20) is a key molecule that transfers acylcarnitine esters in exchange for free carnitine across the mitochondrial membrane in the mitochondrial beta-oxidation. Carnitine 84-93 solute carrier family 25 member 20 Homo sapiens 0-35 19748481-1 2009 Solute carrier family 25, member 20 (SLC25A20) is a key molecule that transfers acylcarnitine esters in exchange for free carnitine across the mitochondrial membrane in the mitochondrial beta-oxidation. Carnitine 84-93 solute carrier family 25 member 20 Homo sapiens 37-45 15057979-1 2004 Deficiency of carnitine/acylcarnitine translocase (CACT) is an autosomal recessive disorder of the carnitine cycle resulting in the inability to transfer fatty acids across the inner mitochondrial membrane. Carnitine 14-23 solute carrier family 25 member 20 Homo sapiens 51-55 11257506-3 2001 The acylation state of the mobile carnitine pool is linked to that of the limited and compartmentalised coenzyme A pools by the action of the family of carnitine acyltransferases and the mitochondrial membrane transporter, CACT. Carnitine 34-43 solute carrier family 25 member 20 Homo sapiens 223-227 33807231-1 2021 The SLC25A20 transporter, also known as carnitine acyl-carnitine carrier (CAC), catalyzes the transport of short, medium and long carbon chain acyl-carnitines across the mitochondrial inner membrane in exchange for carnitine. Carnitine 40-49 solute carrier family 25 member 20 Homo sapiens 4-12 35563000-1 2022 The mitochondrial carnitine/acylcarnitine carrier (CAC) transports short-, medium- and long-carbon chain acylcarnitines across the mitochondrial inner membrane in exchange for carnitine. Carnitine 18-27 solute carrier family 25 member 20 Homo sapiens 51-54 35563000-1 2022 The mitochondrial carnitine/acylcarnitine carrier (CAC) transports short-, medium- and long-carbon chain acylcarnitines across the mitochondrial inner membrane in exchange for carnitine. Carnitine 176-185 solute carrier family 25 member 20 Homo sapiens 51-54 9837782-1 1998 The carnitine/acylcarnitine translocase (CACT) transports acylcarnitines into mitochondria in exchange for free carnitine and it is, therefore, essential for the fatty acid beta-oxidation pathway. Carnitine 4-13 solute carrier family 25 member 20 Homo sapiens 41-45 35360862-18 2022 The most common variant in SLC25A20 gene was c.199-10T > G. Conclusion: Disorders of mitochondrial carnitine-acylcarnitine cycle can be detected by NBS, and the combined incidence of these disorders in newborns was rare in Zhejiang province, China. Carnitine 99-108 solute carrier family 25 member 20 Homo sapiens 27-35