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半岛bd体育手机客户端 介绍
靶标：
FAM111B 半岛bd体育手机客户端 别名： CANP； POIKTMP； FAM111B； FAM111 trypsin like peptidase B； FAM111 trypsin like peptidase B； serine protease FAM111B； cancer-associated nucleoprotein； family with sequence similarity 111 member B； 癌相关核蛋白； 背景信息：
This gene encodes a protein with a trypsin-like cysteine/serine peptidase domain in the C-terminus. Mutations in this gene are associated with an autosomal dominant form of hereditary fibrosing poikiloderma (HFP). Affected individuals display mottled pigmentation, telangiectasia, epidermal atrophy, tendon contractures, and progressive pulmonary fibrosis. Alternative splicing results in multiple transcript variants encoding distinct isoforms. A paralog of this gene which also has a trypsin‐like peptidase domain, FAM111A, is located only 16 kb from this gene on human chromosome 11q12.1. [provided by RefSeq, Apr 2014],
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