USH2A O75445

Usher蛋白 (Usher综合征IIa型蛋白) (Usher综合征2A型蛋白)

功能描述

作为USH2复合物的成员参与听觉和视觉。在内耳中，是维持毛束踝连接形成所必需的，该结构连接发育中耳蜗毛细胞内生长的静纤毛。在视网膜光感受器中，USH2复合物是维持纤毛周膜复合物所必需的，该复合物似乎在调节细胞内蛋白转运中发挥作用。 {ECO:0000250|UniProtKB:Q2QI47}。

组织特异性

Present in the basement membrane of many, but not all tissues. Expressed in retina, cochlea, small and large intestine, pancreas, bladder, prostate, esophagus, trachea, thymus, salivary glands, placenta, ovary, fallopian tube, uterus and testis. Absent in many other tissues such as heart, lung, liver, kidney and brain. In the retina, it is present in the basement membranes in the Bruch's layer choroid capillary basement membranes, where it localizes just beneath the retinal pigment epithelial cells (at protein level). Weakly expressed. Isoform 2 is expressed in fetal eye, cochlea and heart, and at very low level in brain, CNS, intestine, skeleton, tongue, kidney and lung. Isoform 2 is not expressed in stomach and liver. In adult tissues, isoform 2 is expressed in neural retina and testis, and at low level in brain, heart, kidney and liver. Isoform 1 displays a similar pattern of expression but is expressed at very low level in fetal cochlea.

亚细胞定位

Cell projection, stereocilium membrane