ASS1

(redirected from argininosuccinate synthetase 1)

ASS1

A gene on chromosome 9q34.1 that encodes an enzyme which catalyses the penultimate step of the arginine biosynthetic pathway.
 
Molecular pathology
ASS1 mutations cause citrullinemia type 1.
References in periodicals archive ?
[5] Human genes: DMD, dystrophin (muscular dystrophy, Duchenne and Becker types); GLDC glycine dehydrogenase (decarboxylating); SLC25A13, solute carrier family 25, member 13 (citrin); ARC811, ATP-binding cassette, sub-family B (MDR/TAP), member 11; ATP881, ATPase, class I, type 8B, member 1; OTC, ornithine carbamoyltransferase; CPS1, carbamoyl-phosphate synthetase 1, mitochondrial; CY88, cytochrome b-245, beta polypeptide (chronic granulomatous disease); XK, X-linked Kx blood group (McLeod syndrome); RPGR, retinitis pigmentosa GTPase regulator; MECP2, methyl CpG binding protein 2 (Rett syndrome); A551, argininosuccinate synthetase 1; ASL, argininosuccinate lyase; ARC84, ATP-binding cassette, sub-family B (MDR/TAP), member 4.