Argininosuccinate synthetase 1

Argininosuccinate synthetase 1, also known as ASS1, is a human gene.cite web | title = Entrez Gene: ASS1 argininosuccinate synthetase 1| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=445| accessdate = ]

PBB_Summary
section_title =
summary_text = 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. Mutations in the chromosome 9 copy of ASS cause citrullinemia. Two transcript variants encoding the same protein have been found for this gene.cite web | title = Entrez Gene: ASS1 argininosuccinate synthetase 1| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=445| accessdate = ]

References

Further reading

PBB_Further_reading
citations =
*cite journal | author=Beaudet AL, O'Brien WE, Bock HG, "et al." |title=The human argininosuccinate synthetase locus and citrullinemia. |journal=Adv. Hum. Genet. |volume=15 |issue= |pages= 161–96, 291–2 |year= 1986 |pmid= 3513483 |doi=
*cite journal | author=Ikeda S |title= [Recent advances of the treatment in metabolic disorders] |journal=Rinsho Shinkeigaku |volume=40 |issue= 12 |pages= 1264–6 |year= 2001 |pmid= 11464474 |doi=
*cite journal | author=Carritt B, Goldfarb PS, Hooper ML, Slack C |title=Chromosome assignment of a human gene for argininosuccinate synthetase expression in Chinese hamsterxhuman somatic cell hybrids. |journal=Exp. Cell Res. |volume=106 |issue= 1 |pages= 71–8 |year= 1977 |pmid= 852520 |doi=
*cite journal | author=Carritt B |title=Somatic cell genetic evidence for the presence of a gene for citrullinemia on human chromosome 9. |journal=Cytogenet. Cell Genet. |volume=19 |issue= 1 |pages= 44–8 |year= 1977 |pmid= 891260 |doi=
*cite journal | author=Dhanakoti SN, Brosnan ME, Herzberg GR, Brosnan JT |title=Cellular and subcellular localization of enzymes of arginine metabolism in rat kidney. |journal=Biochem. J. |volume=282 ( Pt 2) |issue= |pages= 369–75 |year= 1992 |pmid= 1312326 |doi=
*cite journal | author=Wakui H, Komatsuda A, Itoh H, "et al." |title=Renal argininosuccinate synthetase: purification, immunohistochemical localization, and elastin-binding property. |journal=Ren. Physiol. Biochem. |volume=15 |issue= 1 |pages= 1–9 |year= 1992 |pmid= 1372742 |doi=
*cite journal | author=Kobayashi K, Rosenbloom C, Beaudet AL, O'Brien WE |title=Additional mutations in argininosuccinate synthetase causing citrullinemia. |journal=Mol. Biol. Med. |volume=8 |issue= 1 |pages= 95–100 |year= 1991 |pmid= 1943692 |doi=
*cite journal | author=Kobayashi K, Jackson MJ, Tick DB, "et al." |title=Heterogeneity of mutations in argininosuccinate synthetase causing human citrullinemia. |journal=J. Biol. Chem. |volume=265 |issue= 19 |pages= 11361–7 |year= 1990 |pmid= 2358466 |doi=
*cite journal | author=Isashiki Y, Noda T, Kobayashi K, "et al." |title=Identification of essential arginine residue(s) for Mg-ATP binding of human argininosuccinate synthetase. |journal=Protein Seq. Data Anal. |volume=2 |issue= 4 |pages= 283–7 |year= 1989 |pmid= 2788888 |doi=
*cite journal | author=Jinno Y, Nomiyama H, Matuo S, "et al." |title=Structure of the 5' end region of the human argininosuccinate synthetase gene. |journal=J. Inherit. Metab. Dis. |volume=8 |issue= 3 |pages= 157–9 |year= 1987 |pmid= 3027451 |doi=
*cite journal | author=Freytag SO, Beaudet AL, Bock HG, O'Brien WE |title=Molecular structure of the human argininosuccinate synthetase gene: occurrence of alternative mRNA splicing. |journal=Mol. Cell. Biol. |volume=4 |issue= 10 |pages= 1978–84 |year= 1985 |pmid= 6095035 |doi=
*cite journal | author=Bock HG, Su TS, O'Brien WE, Beaudet AL |title=Sequence for human argininosuccinate synthetase cDNA. |journal=Nucleic Acids Res. |volume=11 |issue= 18 |pages= 6505–12 |year= 1983 |pmid= 6194510 |doi=
*cite journal | author=Freytag SO, Bock HG, Beaudet AL, O'Brien WE |title=Molecular structures of human argininosuccinate synthetase pseudogenes. Evolutionary and mechanistic implications. |journal=J. Biol. Chem. |volume=259 |issue= 5 |pages= 3160–6 |year= 1984 |pmid= 6321498 |doi=
*cite journal | author=Kobayashi K, Kakinoki H, Fukushige T, "et al." |title=Nature and frequency of mutations in the argininosuccinate synthetase gene that cause classical citrullinemia. |journal=Hum. Genet. |volume=96 |issue= 4 |pages= 454–63 |year= 1995 |pmid= 7557970 |doi=
*cite journal | author=Kobayashi K, Shaheen N, Terazono H, Saheki T |title=Mutations in argininosuccinate synthetase mRNA of Japanese patients, causing classical citrullinemia. |journal=Am. J. Hum. Genet. |volume=55 |issue= 6 |pages= 1103–12 |year= 1994 |pmid= 7977368 |doi=
*cite journal | author=Shaheen N, Kobayashi K, Terazono H, "et al." |title=Characterization of human wild-type and mutant argininosuccinate synthetase proteins expressed in bacterial cells. |journal=Enzyme Protein |volume=48 |issue= 5-6 |pages= 251–64 |year= 1996 |pmid= 8792870 |doi=
*cite journal | author=Gress TM, Müller-Pillasch F, Geng M, "et al." |title=A pancreatic cancer-specific expression profile. |journal=Oncogene |volume=13 |issue= 8 |pages= 1819–30 |year= 1996 |pmid= 8895530 |doi=
*cite journal | author=Ji H, Reid GE, Moritz RL, "et al." |title=A two-dimensional gel database of human colon carcinoma proteins. |journal=Electrophoresis |volume=18 |issue= 3-4 |pages= 605–13 |year= 1997 |pmid= 9150948 |doi= 10.1002/elps.1150180344

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