13号染色体开放阅读框12抗体
规格：1mg/1ml
英文名： HSPC014/C13orf12
别名： 2510048O06Rik; C13orf12; Chromosome 13 open reading frame 12; HSPC 014; HSPC036 protein; hUMP 1; hUMP1; PNAS 110; PNAS110; Pomp; POMP_HUMAN; Proteasome maturation protein; Proteassemblin; Protein UMP1
分子量： 16kDa
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 HSPC014/
交叉反应：Human, Mouse,
细胞定位：细胞核 细胞浆
13号染色体开放阅读框12抗体产品介绍：background: The protein encoded by this gene is a molecular chaperone that binds 20S preproteasome components and is essential for 20S proteasome formation. The 20S proteasome is the proteolytically active component of the 26S proteasome complex. The encoded protein is degraded before the maturation of the 20S proteasome is complete. A variant in the 5' UTR of this gene has been associated with KLICK syndrome, a rare skin disorder.[provided by RefSeq, Aug 2010] Function: Molecular chaperone essential for the assembly of standard proteasomes and immunoproteasomes. Degraded after completion of proteasome maturation. Mediates the association of 20S preproteasome with the endoplasmic reticulum. Subcellular Location: Cytoplasm > cytosol. Nucleus. Microsome membrane. Tissue Specificity:13号染色体开放阅读框12抗体 Strongly expressed from the basal layer to the granular layer of healthy epidermis, whereas in KLICK patients there is a gradual decrease of expression toward the granular layer. DISEASE: Defects in POMP are the cause of keratosis linearis with ichthyosis congenita and sclerosing keratoderma (KLICK) [MIM:601952]. KLICK is a keratinizing disorder characterized by ichthyosis, palmoplantar keratoderma with constricting bands around fingers, flexural deformities of fingers and keratotic papules in a linear distribution on the flexural side of large joints.13号染色体开放阅读框12抗体 Histological examination of the skin of affected individuals shows hypertrophy and hyperplasia of the spinous, granular and horny epidermal layer. Similarity: Belongs to the POMP/UMP1 family. Gene ID: 51371 Database links: Entrez Gene: 51371 Human Entrez Gene: 66537 Mouse Entrez Gene: 288455 Rat Omim: 613386 Human SwissProt: Q9Y244 Human SwissProt: Q9CQT5 Mouse Unigene: 268742 Human Unigene: 332855 Mouse Unigene: 28242 Rat Important Note: This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
13号染色体开放阅读框12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 信号转导
储存条件： Store at -20 °C for one year. Avoid repeated freeze/thaw cycles.
来源： Rabbit
外观： Lyophilized or Liquid