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溶质载体有机阴离子转运蛋白家族成员2A1（n SLCO2A1）基因可介导编码有机阴离子转运多肽2A1（OATP2A1），而OATP2A1在人体组织器官内广泛表达，对前列腺素的代谢发挥重要调节作用，参与多种病理生理过程。n SLCO2A1基因异常可通过OATP2A1影响前列腺素的代谢，从而导致疾病。目前已知的n SLCO2A1基因相关性疾病主要包括原发性肥厚性骨关节病（PHO）和n SLCO2A1基因相关慢性肠病（CEAS）两种，临床上对于此类疾病的关注日趋增多。本文结合n SLCO2A1基因的功能特点，介绍近年来n SLCO2A1基因相关性疾病的致病机制、临床特征及治疗进展等。n “,”Organic anion transporting polypeptide 2A1 (n SLCO2A1) gene encodes the organic anion transporting polypeptide 2A1 (OATP2A1) . OATP2A1 is widely expressed in human tissues and organs, plays an important regulatory role in prostaglandin metabolism and participates in various pathophysiological processes. The abnormality of n SLCO2A1 gene can affect the prostaglandin metabolism by OATP2A1, leading to the disease. At present, the known n SLCO2A1 gene related diseases include primary hypertrophic osteoarthropathy (PHO) and chronic enteropathy associated with n SLCO2A1 gene (CEAS) . More attention has been paid to these diseases in recent years. Based on the functional characteristics of n SLCO2A1 gene, the article introduces the pathogenesis, clinical characteristics and treatment progress of n SLCO2A1 gene related diseases.n