{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,8]],"date-time":"2026-07-08T04:11:11Z","timestamp":1783483871474,"version":"3.55.0"},"reference-count":163,"publisher":"MDPI AG","issue":"11","license":[{"start":{"date-parts":[[2025,6,5]],"date-time":"2025-06-05T00:00:00Z","timestamp":1749081600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Conselho Nacional de Desenvolvimento Cient\u00edfico e Tecnol\u00f3gico (CNPq)"},{"name":"Coordena\u00e7\u00e3o de Aperfei\u00e7oamento de Pessoal de N\u00edvel Superior"},{"name":"Chiesi Farmaceutici S.p.A."}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJMS"],"abstract":"<jats:p>1-Acylglycerol-3-phosphate O-acyltransferase (1-AGPAT) is an enzyme family composed of 11 isoforms. Notably, 1-AGPAT 2, the most studied isoform since its discovery, is a critical enzyme in the triglyceride synthesis pathway, converting lysophosphatidic acid to phosphatidic acid. In addition, AGPAT2 gene expression is shown to be essential for adipocyte development and maturation. Defects in AGPAT2 are responsible for significant pathophysiological alterations related to adipose tissue (AT). Pathogenic variants in this gene are the molecular etiology of Congenital Generalized Lipodystrophy type 1 (CGL1), in which fatty tissue is absent from birth. Metabolically, these individuals have several metabolic complications, including hypoleptinemia, hypoadiponectinemia, hyperglycemia, and hypertriglyceridemia. Furthermore, numerous AGPAT2 pathogenic variants that enormously affect the amino acid sequence, the tertiary structure of 1-AGPAT 2, and their transmembrane and functional domains were found in CGL1 patients. However, studies investigating the genotype\u2013phenotype relationship in this disease are scarce. Here, we used bioinformatics tools to verify the effect of the main pathogenic variants reported in the AGPAT2 gene: c.366-588del, c.589-2A&gt;G, c.646A&gt;T, c.570C&gt;A, c.369-372delGCTC, c.202C&gt;T, c.514G&gt;A, and c.144C&gt;A in the 1-AGPAT 2 membrane topology. We also correlated the phenotype of CGL1 subjects harboring these variants to understand the genotype\u2013phenotype relationship. We provided an integrative view of clinical, genetic, and metabolic features from CGL1 individuals, helping to understand the role of 1-AGPAT 2 in the pathogenesis of this rare disease. Data reviewed here highlight the importance of new molecular studies to improve our knowledge concerning clinical and genetic heterogeneity in CGL1.<\/jats:p>","DOI":"10.3390\/ijms26115416","type":"journal-article","created":{"date-parts":[[2025,6,5]],"date-time":"2025-06-05T08:34:32Z","timestamp":1749112472000},"page":"5416","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["The Role of the AGPAT2 Gene in Adipose Tissue Biology and Congenital Generalized Lipodystrophy Pathophysiology"],"prefix":"10.3390","volume":"26","author":[{"given":"Maria Eduarda Cardoso","family":"de Melo","sequence":"first","affiliation":[{"name":"Laborat\u00f3rio de Biologia Molecular e Gen\u00f4mica, Departamento de Biologia Celular e Gen\u00e9tica, Centro de Bioci\u00eancias, Universidade Federal do Rio Grande do Norte (UFRN), Natal 59072-900, RN, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Let\u00edcia Marques Gomes","family":"da Silva","sequence":"additional","affiliation":[{"name":"Laborat\u00f3rio de Biologia Molecular e Gen\u00f4mica, Departamento de Biologia Celular e Gen\u00e9tica, Centro de Bioci\u00eancias, Universidade Federal do Rio Grande do Norte (UFRN), Natal 59072-900, RN, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ana Carolina Costa","family":"Cavalcante","sequence":"additional","affiliation":[{"name":"Laborat\u00f3rio de Biologia Molecular e Gen\u00f4mica, Departamento de Biologia Celular e Gen\u00e9tica, Centro de Bioci\u00eancias, Universidade Federal do Rio Grande do Norte (UFRN), Natal 59072-900, RN, Brazil"},{"name":"Laborat\u00f3rio de Gen\u00e9tica Molecular e Metabolismo, Instituto de Medicina Tropical do Rio Grande do Norte, Centro de Bioci\u00eancias, Universidade Federal do Rio Grande do Norte (UFRN), Natal 59072-900, RN, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1627-7018","authenticated-orcid":false,"given":"Josivan Gomes","family":"Lima","sequence":"additional","affiliation":[{"name":"Laborat\u00f3rio de Gen\u00e9tica Molecular e Metabolismo, Instituto de Medicina Tropical do Rio Grande do Norte, Centro de Bioci\u00eancias, Universidade Federal do Rio Grande do Norte (UFRN), Natal 59072-900, RN, Brazil"},{"name":"Departamento de Medicina Cl\u00ednica, Hospital Universit\u00e1rio Onofre Lopes (HUOL), Universidade Federal do Rio Grande do Norte (UFRN), Natal 59012-300, RN, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8501-5521","authenticated-orcid":false,"given":"Julliane Tamara Ara\u00fajo de Melo","family":"Campos","sequence":"additional","affiliation":[{"name":"Laborat\u00f3rio de Biologia Molecular e Gen\u00f4mica, Departamento de Biologia Celular e Gen\u00e9tica, Centro de Bioci\u00eancias, Universidade Federal do Rio Grande do Norte (UFRN), Natal 59072-900, RN, Brazil"},{"name":"Laborat\u00f3rio de Gen\u00e9tica Molecular e Metabolismo, Instituto de Medicina Tropical do Rio Grande do Norte, Centro de Bioci\u00eancias, Universidade Federal do Rio Grande do Norte (UFRN), Natal 59072-900, RN, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2025,6,5]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"386","DOI":"10.1080\/10425170500213712","article-title":"Cloning and characterization a novel human 1-acyl-sn-glycerol-3-phosphate acyltransferase gene AGPAT7","volume":"16","author":"Ye","year":"2005","journal-title":"DNA Seq."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"745","DOI":"10.1194\/jlr.M500553-JLR200","article-title":"Agpat6 deficiency causes subdermal lipodystrophy and resistance to obesity","volume":"47","author":"Vergnes","year":"2006","journal-title":"J. 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