Physical and linkage mapping of human carbamyl phosphate synthetase I (CPS1) and reassignment from 2p to 2q35.

doi:10.1159/000134124

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Article

Physical and linkage mapping of human carbamyl phosphate synthetase I (CPS1) and reassignment from 2p to 2q35.

Cytogenetics and cell genetics - 1 Jan 1995

Summar M L, Dasouki M J, Schofield P J, Krishnamani M R, Vnencak-Jones C, Tuchman M, Mao J, Phillips J A

Abstract excerpt

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,...

Topics

Carbamoyl-Phosphate Synthase (Ammonia)
Chromosome Mapping
Chromosomes, Human, Pair 2
Genetic Linkage
Genotype
Humans
In Situ Hybridization, Fluorescence
Polymorphism, Restriction Fragment Length

Source

Open in PubMed

Identifiers

PMID: 7587391
DOI: 10.1159/000134124

Genes

CPS1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-7587391-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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