FKBP14蛋白抗体
规格：1mg/1ml
英文名： FKBP14
别名： 22 kDa FK506 binding protein; 22 kDa FK506-binding protein; 22 kDa FKBP; FK506 binding protein 14 (22 kDa); FK506 binding protein 14; FK506-binding protein 14; FKB14_HUMAN; FKBP 22; FKBP-14; FKBP-22;
分子量： 24kDa
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 FKBP14
交叉反应：Human, Mouse, Rat, Pig, Cow, Horse, Rabbit,
细胞定位：
FKBP14蛋白抗体产品介绍：background: The protein encoded by this gene is a member of the FK506-binding protein family of peptidyl-prolyl cis-trans isomerases. The encoded protein is found in the lumen of the endoplasmic reticulum, where it is thought to accelerate protein folding. Defects in this gene are a cause of a type of Ehlers-Danlos syndrome (EDS). Both a protein-coding variant and noncoding variants are transcribed from this gene. [provided by RefSeq, Mar 2012] Function: PPIases accelerate the folding of proteins during protein synthesis. Subcellular Location: Endoplasmic reticulum lumen. DISEASE: Defects in FKBP14 are the cause of Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss (EDSKMH) [MIM:614557]. A syndrome with features of Ehlers-Danlos syndrome types VIA and VIB on the one hand, and the collagen VI-related congenital myopathies Ullrich congenital muscular dystrophy and Bethlem myopathy on the other hand. Clinically,FKBP14蛋白抗体 this disorder is characterized by the following features: severe generalized hypotonia at birth with marked muscle weakness that improve in infancy; early-onset progressive kyphoscoliosis; joint hypermobility without contractures; hyperelastic skin with follicular hyperkeratosis, easy bruising, and occasional abnormal scarring; myopathy as confirmed by muscle MRI, histology, and electron microscopy; hearing impairment, which is FKBP14蛋白抗体predominantly sensorineural; and a normal ratio of lysyl pyridinoline to hydroxylysyl pyridinoline (LP/HP) in urine. Similarity: Contains 2 EF-hand domains. Contains 1 PPIase FKBP-type domain. Gene ID: 55033 Database links: Entrez Gene: 55033 Human Entrez Gene: 231997 Mouse Entrez Gene: 362366 Rat Omim: 614505 Human SwissProt: Q9NWM8 Human SwissProt: P59024 Mouse Unigene: 390838 Human Unigene: 274693 Mouse Unigene: 12713 Rat Important Note: This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
FKBP14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 **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