title: Physical and linkage mapping of human carbamyl phosphate synthetase I (CPS1) and reassignment from 2p to 2q35.
abstract: Carbamyl Phosphate Synthetase I (CPS1) (EC 6.3.4.16) is a highly conserved mitochondrial enzyme catalyzing the first committed step of waste nitrogen metabolism in the urea cycle. Using FISH for physical mapping and CEPH families for linkage analysis, we mapped the CPS1 gene (CPS1) to 2q34-->q35, reassigning it from 2p where it was originally mapped.
authors.affiliation: Department of Pediatrics, Vanderbilt University Medical School, Nashville, TN 37232, USA.
authors.forename: M L
authors.initials: ML
authors.lastname: Summar
authors.forename: M J
authors.initials: MJ
authors.lastname: Dasouki
authors.forename: P J
authors.initials: PJ
authors.lastname: Schofield
authors.forename: M R
authors.initials: MR
authors.lastname: Krishnamani
authors.forename: C
authors.initials: C
authors.lastname: Vnencak-Jones
authors.forename: M
authors.initials: M
authors.lastname: Tuchman
authors.forename: J
authors.initials: J
authors.lastname: Mao
authors.forename: J A
authors.initials: JA
authors.lastname: Phillips
mesh_terms: D002222:Carbamoyl-Phosphate Synthase (Ammonia) / Q000235:genetics*; D002874:Chromosome Mapping; D002889:Chromosomes, Human, Pair 2; D008040:Genetic Linkage; D005838:Genotype; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D012150:Polymorphism, Restriction Fragment Length
chemical_list: D002222:Carbamoyl-Phosphate Synthase (Ammonia)