S2P内肽酶抗体
规格：1mg/1ml
英文名： Site 2 protease
别名： BRESEK; Endopeptidase S2P; IFAP; KFSDX; MBTP2_HUMAN; MBTPS2; Membrane bound transcription factor site 2 protease; membrane-bound transcription factor peptidase, site 2; membrane-bound transcription fa
分子量： 57kDa
储存液：0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glyce
克隆类型：Polyclonal
亚型：IgG
纯化方法：affinity purified by Protein A
**原：KLH conjugated synthetic peptide derived from human Site 2 p
交叉反应：Human, Mouse, Rat, Cow, Horse, Sheep,
细胞定位：细胞浆 细胞膜
S2P内肽酶抗体产品介绍：background: This gene encodes a intramembrane zinc metalloprotease, which is essential in development. This protease functions in the signal protein activation involved in sterol control of transcription and the ER stress response. Mutations in this gene have been associated with ichthyosis follicularis with atrichia and photophobia (IFAP syndrome); IFAP syndrome has been quantitatively linked to a reduction in cholesterol homeostasis and ER stress response.[provided by RefSeq, Aug 2009] Function: Intramembrane proteolysis of sterol-regulatory element-binding proteins (SREBPs) within the first transmembrane segment thereby releasing the N-terminal segment with a portion of the transmembrane segment attached. Site-2 cleavage comes after site-1 cleavage which takes place in the lumenal loop. Subcellular Location: Membrane. Cytoplasm. Tissue Specificity: Expressed in heart, brain, placenta, lung, liver, muscle, kidney and pancreas. DISEASE: Defects in MBTPS2 are the cause of ichthyosis follicularis-atrichia-photophobia syndrome (IFAPS) [MIM:308205]. A syndrome characterized by a peculiar triad of follicular S2P内肽酶抗体ichthyosis, total or subtotal atrichia, and photophobia of varying degree. Histopathologically, the epidermal granular layer is generally well-preserved or thickened at the infundibulum. Hair follicles are poorly developed and tend to be surrounded by an inflammatory infiltrate. A subgroup of patients is described with lamellar rather than follicular ichthyosis. Non-consistent features may include growth and psychomotor retardation, aganglionic megacolon, seizures and nail dystrophy. Defects in MBTPS2 are a cause of keratosis follicularis spinulosa decalvans X-linked (KFSDX) [MIM:308800]. S2P内肽酶抗体A rare disorder affecting the skin and the eye. Affected men show thickening of the skin of the neck, ears, and extremities, especially the palms and soles, loss of eyebrows, eyelashes and beard, thickening of the eyelids with blepharitis and ectropion, and corneal degeneration. Similarity: Belongs to the peptidase M50A family. Gene ID: 51360 Database links: Entrez Gene: 51360 Human Entrez Gene: 270669 Mouse Entrez Gene: 302705 Rat Omim: 300294 Human SwissProt: O43462 Human SwissProt: Q8CHX6 Mouse Unigene: 443490 Human Unigene: 37577 Mouse Unigene: 212224 Rat Important Note: This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
S2P内肽酶抗体产品应用：WB=1:100-500 ELISA=1:500-1000 IHC-P=1:100-500 IHC-F=1:100-500 ICC=1:100-500 IF=1:100-500 （石蜡切片需做抗原修复） not yet tested in other applications. optimal dilutions/concentrations should be determined by the end user.
研究领域：细胞生物 **学 泛素
储存条件： Store at -20 °C for one year. Avoid repeated freeze/thaw cycles.
来源： Rabbit
外观： Lyophilized or Liquid