MTAP è un gene codificato dal simbolo MTAP. Comunemente indicato anche come: S-methyl-5'-thioadenosine phosphorylase; 5'-methylthioadenosine phosphorylase; MTA phosphorylase; MSAP. MTAP ha una massa di 31.24kDa, una lunghezza di amminoacidi di 283, ed è implicato in Diaphyseal medullary stenosis with malignant fibrous histiocytoma.
Offriamo 16 anticorpi contro MTAP, allevati nel Coniglio e Topo, che sono adatti per WB, IHC, ELISA, ICC/IF e IP con campioni derivati da Umano, Topo e Ratto.
Informazioni su geni e proteine
Riepilogo 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.
Sommario di 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.
Specificità del tessuto
Ubiquitously expressed.
Coinvolgimento nella malattia
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.
Somiglianze di sequenza
Belongs to the PNP/MTAP phosphorylase family. MTAP subfamily.
Posizione cellulare
Cytoplasm. Nucleus.
