Svensk definition
En grupp av Mg2+/Mn2+-beroende huvudsakligen pyrofosfohydrolaser som hydrolyserar strukturer av NUcleoside DIphosphate kopplade till en annan enhet X till nukleosidmonofosfat och X-Phosphate. Nudix-hydrolaser delar den konserverade Nudix-boxen (GX5EX7REUXEEXGU) och bryter ned en mängd olika substrat inklusive oxiderade nukleotider (t.ex. MutT) och metaboliska intermediärer (t.ex. tiaminpyrofosfatas). Hos människor deltar Nudix-superfamiljproteiner, t.ex. MutT-proteiner, i reparationer av DNA-skador. Mutationer i nudixhydrolas (NUDT15) förknippas med en störning i purin-pyrimidin, medfödda ämnesomsättningsrubbningar som kallas THPM2, och mutationer i nudixhydrolas (NUDT2) förknippas med IDDPN, en utvecklingsrelaterad intellektuell störning.
Engelsk definition
A group of Mg2+/Mn2+-dependent mainly pyrophosphohydrolases that hydrolyzes structures of NUcleoside DIphosphate linked to another moiety X to nucleoside monophosphate and X-Phosphate. Nudix hydrolases share conserved Nudix box (GX5EX7REUXEEXGU) and degrade variety of substrates including oxidized nucleotides (e.g., MutT) and metabolic intermediates (e.g., THIAMINE PYROPHOSPHATASE). In humans, Nudix superfamily proteins such as MutT proteins participate in DNA damage repairs. Mutations on a nudix hydrolase (NUDT15) are associated with a PURINE-PYRIMIDINE METABOLISM, INBORN ERRORS disorder called THPM2, and mutations in nudix hydrolase (NUDT2) are associated with IDDPN, a developmental intellectual disorder.
Svenska synonymer
Inga svenska synonymer finns.
Engelska synonymer
Nudix Proteins — Nucleoside Diphosphates-Linked to Moiety-X Hydrolases — Nucleoside Diphosphates Linked to Moiety X Hydrolases — Nudix Hydrolase — Hydrolase, Nudix