Order NO. D263872
產品描述
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.
應用
酶聯免疫吸附測定(ELISA),免疫組織化學(IHC)
屬性
保存緩衝液 |
-20°C, pH7.4 PBS, 0.05% NaN3, 40% Glycerol
|
運輸條件 |
2-8°C
|
靶點 Uniprot 登記號 |
Q6SJ93
|
靶點基因 ID |
374393
|
靶點全稱 |
family with sequence similarity 111 member B
|
靶點別名 |
CANP; POIKTMP
|
靶點研究領域 |
Cell Biology
|
亞型 |
Immunogen-specific rabbit IgG
|