Wu G, Hayashi T, Park J H, Dixit M, Reynolds D M, Li L, Maeda Y, Cai Y, Coca-Prados M, Somlo S
Department of Medicine and Department of Molecular Genetics, Albert Einstein College of Medicine, Bronx, New York, 10461, USA.
Genomics. 1998 Dec 15;54(3):564-8. doi: 10.1006/geno.1998.5618.
Mutations in PKD2 cause autosomal dominant kidney disease (ADPKD). Polycystin-2, the PKD2 gene product, is an integral membrane glycoprotein of unknown function. We have identified PKD2L, another member of the PKD2 gene family. PKD2L is expressed in adult heart and skeletal muscle, brain, spleen, testis, and retina, and alternative transcripts of 2.4, 2.7, and 3.0 kb are seen. PKD2L shows 56% identity and 76% similarity with polycystin-2 over a 581-amino-acid span; however, the COOH-terminal 65 residues of PKD2L are unrelated to PKD2. PKD2L is localized to chromosome 10q25 and is excluded as a candidate gene for autosomal recessive polycystic kidney disease, autosomal dominant polycystic liver disease, and the third form of ADPKD. Given the high degree of homology between PKD2L and PKD2, it is likely that the respective functions of these proteins are also closely related.
PKD2基因突变会导致常染色体显性遗传性肾病（ADPKD）。多囊蛋白-2是PKD2基因的产物，是一种功能未知的整合膜糖蛋白。我们已经鉴定出PKD2L，它是PKD2基因家族的另一个成员。PKD2L在成体心脏、骨骼肌、脑、脾脏、睾丸和视网膜中表达，并且可以观察到2.4、2.7和3.0 kb的可变转录本。在581个氨基酸的跨度上，PKD2L与多囊蛋白-2有56%的一致性和76%的相似性；然而，PKD2L的COOH末端65个残基与PKD2无关。PKD2L定位于染色体10q25，并且被排除作为常染色体隐性遗传性多囊肾病、常染色体显性遗传性多囊肝病以及第三种形式的ADPKD的候选基因。鉴于PKD2L和PKD2之间的高度同源性，这些蛋白质各自的功能很可能也密切相关。
