NUDT2
Function
Catalyzes the asymmetric hydrolysis of diadenosine 5',5'''-P1,P4-tetraphosphate (Ap4A) to yield AMP and ATP (By similarity). Exhibits decapping activity towards FAD-capped RNAs and dpCoA-capped RNAs in vitro (By similarity).
Involvement in disease
Intellectual developmental disorder with or without peripheral neuropathy
IDDPN
An autosomal recessive disorder characterized by global developmental delay appearing in infancy or early childhood, intellectual disability, and progressive sensorimotor neuropathy with associated distal weakness. Affected individuals have hypotonia and delayed walking with an unsteady gait and frequent falls. Additional features may include dysarthria and subtle facial dysmorpism.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the Nudix hydrolase family.
Alternative names
APAH1, NUDT2, Bis(5'-nucleosyl)-tetraphosphatase [asymmetrical], Nucleoside diphosphate-linked moiety X motif 2, Ap4A hydrolase, Ap4Aase, Diadenosine tetraphosphatase, Nudix motif 2