腺苷酸琥珀酸裂解酶抗体

腺苷酸琥珀酸裂解酶抗体 Background: Adenylsuccinate lyase is involved in both de novo synthesis of purines and formation of adenosine monophosphate from inosine monophosphate. It catalyzes two reactions in AMP biosynthesis: the removal of a fumarate from succinylaminoimidazole carboxamide (SAICA) ribotide to give aminoimidazole carboxamide ribotide (AICA) and removal of fumarate from adenylosuccinate to give AMP. Adenylosuccinase deficiency results in succinylpurinemic autism, psychomotor retardation, and , in some cases, growth retardation associated with muscle wasting and epilepsy. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]. Also known as: Adenylosuccinase; Adenylosuccinate lyase; ADSL; AMPS; ASase; ASL; PUR8_HUMAN.腺苷酸琥珀酸裂解酶抗体