蝶呤甲醇胺脱水酶1抗体
规格：1mg/1ml
英文名： PCBD1
别名： 4 alpha hydroxy tetrahydropterin dehydratase; 4-alpha-hydroxy-tetrahydropterin dehydratase; 6 pyruvoyl tetrahydropterin synthase/dimerization cofactor of hepatocyte nuclear factor 1 alpha (TCF1); 6 py
分子量： 12kDa
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 PCBD1
交叉反应：Human, Mouse, Rat, Cow, Rabbit,
细胞定位：细胞核 细胞浆
蝶呤甲醇胺脱水酶1抗体产品介绍：background: This gene encodes a member of the pterin-4-alpha-carbinolamine dehydratase family. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions. The encoded protein functions as both a dehydratase involved in tetrahydrobiopterin biosynthesis, and as a cofactor for HNF1A-dependent transcription. A deficiency of this enzyme leads to hyperphenylalaninemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014] Function: Involved in tetrahydrobiopterin biosynthesis. Seems to both prevent the formation of 7-pterins and accelerate the formation of quinonoid-BH2. Coactivator for HNF1A-dependent transcription. Regulates the dimerization of homeodomain protein HNF1A and enhances its transcriptional activity. Subcellular Location: Cytoplasm. Nucleus. Cytoplasmic and/or nuclear. DISEASE: Defects in PCBD1 are the cause of BH4蝶呤甲醇胺脱水酶1抗体-deficient hyperphenylalaninemia type D (HPABH4D) [MIM:264070]; also known as hyperphenylalaninemia with primapterinuria. HPABH4D is characterized by the excretion of 7-substituted pterins in the urine of affected patients. Similarity: Belongs to the pterin-4-alpha-carbinolamine dehydratase family. Gene ID: 5092 Database links: Entrez Gene: 395729 Chicken Entrez Gene: 530736 Cow Entrez Gene: 43499 Fruit fly (Drosophila melanogaster) Entrez Gene: 5092 Human Entrez Gene: 13180 Mouse Entrez Gene: 29700 Rat Omim: 126090 Human 蝶呤甲醇胺脱水酶1抗体SwissProt: O73930 Chicken SwissProt: Q3ZBD3 Cow SwissProt: O76454 Fruit fly (Drosophila melanogaster) SwissProt: P61457 Human SwissProt: P61458 Mouse SwissProt: P61459 Rat Unigene: 20276 Fruit fly (Drosophila melanogaster) Unigene: 3192 Human Unigene: 39473 Mouse Unigene: 81180 Rat Important Note: This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
蝶呤甲醇胺脱水酶1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：肿瘤 细胞生物 信号转导 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