Order NO. D263872
产品描述
概述
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.
应用
酶联免疫吸附测定(ELISA),免疫组织化学(IHC)
属性
保存缓冲液 |
-20°C, pH7.4 PBS, 0.05% NaN3, 40% Glycerol
|
运输条件 |
2-8°C
|
靶点 Uniprot 登记号 |
Q6SJ93
|
靶点基因 ID |
374393
|
靶点全称 |
family with sequence similarity 111 member B
|
靶点别名 |
CANP; POIKTMP
|
靶点研究领域 |
Cell Biology
|
亚型 |
Immunogen-specific rabbit IgG
|