锌金属蛋白酶STE24同源蛋白抗体
规格：1mg/1ml
英文名： FACE1/ZMPSTE24
别名： CAAX prenyl protease 1 homolog; FACE-1; FACE1; FACE1_HUMAN; Farnesylated proteins converting enzyme 1; Farnesylated proteins-converting enzyme 1; Prenyl protein specific endoprotease 1; Prenyl protein
分子量： 55kDa
储存液：Preservative: 15mM Sodium Azide, Constituents: 1% BSA, 0.01M
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 FACE1/ZM
交叉反应：Human,
细胞定位：
锌金属蛋白酶STE24同源蛋白抗体产品介绍：background: This gene encodes a member of the peptidase M48A family. The encoded protein is a zinc metalloproteinase involved in the two step post-translational proteolytic cleavage of carboxy terminal residues of farnesylated prelamin A to form mature lamin A. Mutations in this gene have been associated with mandibuloacral dysplasia and restrictive dermopathy. [provided by RefSeq, Jul 2008] Function: Proteolytically removes the C-terminal three residues of farnesylated proteins. Acts on lamin A/C. Subcellular Location: Endoplasmic reticulum membrane. Golgi apparatus membrane. Tissue Specificity: Widely expressed. High levels in kidney, prostate, testis and ovary. DISEASE: Defects in ZMPSTE24 are the cause of mandibuloacral dysplasia with type B lipodystrophy (MADB) [MIM:608612]. Mandibuloacral dysplasia (MAD) is a rare autosomal recessive disorder characterized by mandibular and clavicular hypoplasia, acroosteolysis, delayed closure of the cranial suture, joint contractures, and types A or B patterns of lipodystrophy. Type B lipodystrophy observed in MADB, is characterized by generalized fat loss. Defects in ZMPSTE24 are a cause of lethal tight skin contracture syndrome (LTSCS) [MIM:275210]; also called restrictive dermopathy锌金属蛋白酶STE24同源蛋白抗体 (RD). Lethal tight skin contracture syndrome is a rare disorder mainly characterized by intrauterine growth retardation, tight and rigid skin with erosions, prominent superficial vasculature and epidermal hyperkeratosis, facial features (small mouth, small pinched nose and micrognathia), sparse/absent eyelashes and eyebrows, mineralization defects of the skull, thin dysplastic clavicles, pulmonary hypoplasia, multiple joint contractures and an early neonatal lethal course. Liveborn children usually die within the first week of life. The overall prevalence of 锌金属蛋白酶STE24同源蛋白抗体consanguineous cases suggested an autosomal recessive inheritance. Similarity: Belongs to the peptidase M48A family. Database links: Entrez Gene: 10269 Human Omim: 606480 Human SwissProt: O75844 Human Unigene: 132642 Human Unigene: 721062 Human Important Note: This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
锌金属蛋白酶STE24同源蛋白抗体产品应用：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 发育生物学 转录调节因子 锌指蛋白 表观遗传学
储存条件： Store at -20 °C for one year. Avoid repeated freeze/thaw cycles.
来源： Rabbit
外观： Lyophilized or Liquid