{"product_id":"yp-ab-05611-100ul","title":"GCH1 Polyclonal Antibody","description":"\u003cul\u003e\n\u003cli\u003e\n\u003cb\u003eGene Name:\u003c\/b\u003e GCH1 DYT5 GCH\u003c\/li\u003e\n\u003cli\u003e\n\u003cb\u003eImmunogen:\u003c\/b\u003e Synthesized peptide derived from part region of human protein\u003c\/li\u003e\n\u003cli\u003e\n\u003cb\u003eSpecificity:\u003c\/b\u003e GCH1 Polyclonal Antibody detects endogenous levels of protein.\u003c\/li\u003e\n\u003cli\u003e\n\u003cb\u003eComposition:\u003c\/b\u003e Liquid in PBS containing 50% glycerol,  and 0.02% sodium azide.\u003c\/li\u003e\n\u003cli\u003e\n\u003cb\u003eSource:\u003c\/b\u003e Polyclonal, Rabbit,IgG\u003c\/li\u003e\n\u003cli\u003e\n\u003cb\u003eDilution ratio:\u003c\/b\u003e WB 1:500-2000 ELISA 1:5000-20000\u003c\/li\u003e\n\u003cli\u003e\n\u003cb\u003ePurification process:\u003c\/b\u003e The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.\u003c\/li\u003e\n\u003cli\u003e\n\u003cb\u003eConcentration:\u003c\/b\u003e 1 mg\/ml\u003c\/li\u003e\n\u003cli\u003e\n\u003cb\u003eStorage:\u003c\/b\u003e -20°C\/1 year\u003c\/li\u003e\n\u003cli\u003e\n\u003cb\u003eBackground:\u003c\/b\u003e This gene encodes a member of the GTP cyclohydrolase family. The encoded protein is the first and rate-limiting enzyme in tetrahydrobiopterin (BH4) biosynthesis, catalyzing the conversion of GTP into 7,8-dihydroneopterin triphosphate. BH4 is an essential cofactor required by aromatic amino acid hydroxylases as well as nitric oxide synthases. Mutations in this gene are associated with malignant hyperphenylalaninemia and dopa-responsive dystonia. Several alternatively spliced transcript variants encoding different isoforms have been described; however, not all variants give rise to a functional enzyme. [provided by RefSeq, Jul 2008],\u003c\/li\u003e\n\u003cli\u003e\n\u003cb\u003eFunction:\u003c\/b\u003e catalytic activity:GTP + H(2)O = formate + 2-amino-4-hydroxy-6-(erythro-1,2,3-trihydroxypropyl)-dihydropteridine triphosphate.,disease:Defects in GCH1 are the cause of dystonia type 5 (DYT5) [MIM:128230]; also known as progressive dystonia with diurnal fluctuation, autosomal dominant Segawa syndrome or dystonia-parkinsonism with diurnal fluctuation. DYT5 is a DOPA-responsive dystonia. Dystonia is defined by the presence of sustained involuntary muscle contractions, often leading to abnormal postures. DYT5 typically presents in childhood with walking problems due to dystonia of the lower limbs and worsening of the dystonia towards the evening. It is characterized by postural and motor disturbances showing marked diurnal fluctuation. Torsion of the trunk is unusual. Symptoms are alleviated after sleep and aggravated by fatigue and excercise. There is a favorable response to L-DOPA without\u003c\/li\u003e\n\u003cli\u003e\n\u003cb\u003eSpecies:\u003c\/b\u003e Human;Mouse;Rat\u003c\/li\u003e\n\u003cli\u003e\n\u003cb\u003eRange:\u003c\/b\u003e WB;ELISA\u003c\/li\u003e\n\u003cli\u003e\n\u003cb\u003eProtein:\u003c\/b\u003e GTP cyclohydrolase 1 (EC 3.5.4.16) (GTP cyclohydrolase I) (GTP-CH-I)\u003c\/li\u003e\n\u003cli\u003e\n\u003cb\u003eDA:\u003c\/b\u003e 27kD\u003c\/li\u003e\n\u003c\/ul\u003e","brand":"Upingbio","offers":[{"title":"100UL","offer_id":47780978327776,"sku":"YP-Ab-05611-100UL","price":0.0,"currency_code":"KRW","in_stock":true}],"thumbnail_url":"\/\/cdn.shopify.com\/s\/files\/1\/0601\/9330\/8896\/files\/images_97dc9446-c37c-4925-a0a4-b2d9335a7671.png?v=1758596100","url":"https:\/\/rndmate.com\/products\/yp-ab-05611-100ul","provider":"알앤디메이트","version":"1.0","type":"link"}