GeneID: 66

Description:
The encoded protein is an enzyme of major importance in the arginine biosynthesis pathway. It catalyses the conversion of citrulline and aspartate to argininosuccinate, which is further converted to arginine by argininosuccinate lyase (ASL). ASS1 participates in several metabolic pathways that are linked to the varied uses of arginine, including the synthesis of urea, nitric oxide, polyamines and creatine. There are 14 copies of the ASS1 gene scattered across the human genome, of which the one located on chromosome 9 is the only functional copy for argininosuccinate synthetase. Mutations in the chromosome 9 copy of this gene cause citrullinemia. Polymorphisms in this gene associated with HbF levels in sickle cell patients. Two transcript variants encoding the same protein have been found for this gene.

Synonyms: CTLN1 , ASS

Comments:
N/A

Number of entries/variants: 6

1. Sebastiani P, Wang L, Nolan VG, Melista E, Ma Q, Baldwin CT, Steinberg MH, Fetal hemoglobin in sickle cell anemia: Bayesian modeling of genetic associations., Am. J. Hematol. , 83(3), 189-95, 2008 PubMed
2. Haines RJ, Pendleton LC, Eichler DC, Argininosuccinate synthase: at the center of arginine metabolism., Int J Biochem Mol Biol , 2(1), 8-23, 2011 PubMed