This gene encodes an enzyme that catalyzes the conversion of N-acetyl_L-aspartic acid (NAA) to aspartate and acetate. NAA is abundant in the brain where hydrolysis by aspartoacylase is thought to help maintain white matter. This protein is an NAA scavenger in other tissues. Mutations in this gene cause Canavan disease. Alternatively spliced transcript variants have been found for this gene.
A synthesized peptide derived from human Asparagine synthetase, corresponding to a region within N-terminal amino acids.
A synthesized peptide derived from human ASPM, corresponding to a region within the internal amino acids.
A synthesized peptide derived from human Asporin, corresponding to a region within C-terminal amino acids.
A synthesized peptide derived from human ASPP1, corresponding to a region within the internal amino acids.
A synthesized peptide derived from human ASPP2, corresponding to a region within the internal amino acids.
A synthesized peptide derived from human ASPRV1.
A synthesized peptide derived from human ASRGL1, corresponding to a region within the internal amino acids.
ASS1 is a rate-limiting enzyme in the urea cycle. Citrullinemia type I is an autosomal recessive disorder that is caused by a deficiency of the urea cycle enzyme argininosuccinate synthetase (ASS1). Deficiency of ASS1 shows various clinical manifestations encompassing severely affected patients with fatal neonatal hyperammonemia as well as asymptomatic individuals with only a biochemical phenotype.
Inserisci la tua e-mail e seleziona le aree di interesse per ricevere le ultime novità, approfondimenti e promozioni.
Seleziona uno o più ambiti di interesse per ricevere comunicazioni più utili e mirate.
2025 TEMA Ricerca - All Rights Reserved.
