Argininosuccinate synthetase is an enzyme that in humans is encoded by the ASS1 gene.[5][6][7]
The protein encoded by this gene catalyzes the penultimate step of the arginine biosynthetic pathway. There are approximately 10 to 14 copies of this gene including the pseudogenes scattered across the human genome, among which the one located on chromosome 9 appears to be the only functional gene for argininosuccinate synthetase. Two transcript variants encoding the same protein have been found for this gene.[7]
- ^ a b c GRCh38: Ensembl release 89: ENSG00000130707 – Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000076441 – Ensembl, May 2017
- ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ^ Beaudet AL, O'Brien WE, Bock HG, Freytag SO, Su TS (Mar 1986). "The Human Argininosuccinate Synthetase Locus and Citrullinemia". Advances in Human Genetics 15. Vol. 15. pp. 161–96, 291–2. doi:10.1007/978-1-4615-8356-1_3. ISBN 978-1-4615-8358-5. PMID 3513483.
- ^ Carritt B, Goldfarb PS, Hooper ML, Slack C (April 1977). "Chromosome assignment of a human gene for argininosuccinate synthetase expression in Chinese hamsterxhuman somatic cell hybrids". Experimental Cell Research. 106 (1): 71–78. doi:10.1016/0014-4827(77)90242-7. PMID 852520.
- ^ a b "Entrez Gene: ASS1 argininosuccinate synthetase 1".