MTAP est un gène codé par le symbole MTAP. Communément appelé aussi: S-methyl-5'-thioadenosine phosphorylase; 5'-methylthioadenosine phosphorylase; MTA phosphorylase; MSAP. MTAP a une masse de 31.24kDa, une longueur d'acide aminé de 283, et est impliqué dans Diaphyseal medullary stenosis with malignant fibrous histiocytoma.
Nous proposons 16 des anticorps contre MTAP, élevé dans Lapin et Souris, qui sont appropriés pour le WB, IHC, ELISA, ICC/IF et IP avec des échantillons dérivés de Humain, Souris et Rat.
Informations sur les Gènes et les Protéines
Résumé UniProt
Catalyzes the reversible phosphorylation of S-methyl-5'-thioadenosine (MTA) to adenine and 5-methylthioribose-1-phosphate. Involved in the breakdown of MTA, a major by-product of polyamine biosynthesis. Responsible for the first step in the methionine salvage pathway after MTA has been generated from S-adenosylmethionine. Has broad substrate specificity with 6-aminopurine nucleosides as preferred substrates.
Résumé Entrez
This gene encodes an enzyme that plays a major role in polyamine metabolism and is important for the salvage of both adenine and methionine. The encoded enzyme is deficient in many cancers because this gene and the tumor suppressor p16 gene are co-deleted. Multiple alternatively spliced transcript variants have been described for this gene, but their full-length natures remain unknown.
Spécificité tissulaire
Ubiquitously expressed.
Implication dans la maladie
Diaphyseal medullary stenosis with malignant fibrous histiocytoma: An autosomal dominant bone dysplasia characterized by pathologic fractures due to abnormal cortical growth and diaphyseal medullary stenosis. The fractures heal poorly, and there is progressive bowing of the lower extremities. Some patients show a limb-girdle myopathy, with muscle weakness and atrophy. Approximately 35% of affected individuals develop an aggressive form of bone sarcoma consistent with malignant fibrous histiocytoma or osteosarcoma.
Similitudes de séquence
Belongs to the PNP/MTAP phosphorylase family. MTAP subfamily.
Localisation cellulaire
Cytoplasm. Nucleus.
