CDSN
收藏rgd.mcw.edu2025-03-24 收录
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https://rgd.mcw.edu/rgdweb/report/gene/main.html?id=1353195
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资源简介：
This gene encodes a protein found in corneodesmosomes, which localize to human epidermis and other cornified squamous epithelia. The encoded protein undergoes a series of cleavages during corneocyte maturation. This gene is highly polymorphic in human populations, and variation has been associated with skin diseases such as psoriasis, hypotrichosis and peeling skin syndrome. The gene is located in the major histocompatibility complex (MHC) class I region on chromosome 6. [provided by RefSeq, Dec 2014]
本基因编码一种在角膜桥粒中发现的蛋白质，该蛋白质定位于人体表皮及其他角化的鳞状上皮。编码的蛋白质在角质细胞成熟过程中经历一系列切割。该基因在人类群体中高度多态，其变异与银屑病、稀疏毛症和剥脱性皮炎综合征等皮肤病相关联。该基因位于染色体6上的人类主要组织相容性复合体（MHC）I类区域。[由RefSeq提供，2014年12月]
提供机构：
Rat Genome Database
