Gene Review:
CPS1 - carbamoyl-phosphate synthase 1, mitochondrial
Homo sapiens
Synonyms:
CPSASE1, CPSase I, Carbamoyl-phosphate synthetase I, PHN
- CPS1, a homolog of the Streptococcus pneumoniae type 3 polysaccharide synthase gene, is important for the pathobiology of Cryptococcus neoformans. Chang, Y.C., Jong, A., Huang, S., Zerfas, P., Kwon-Chung, K.J. Infect. Immun. (2006)
- Carbamyl phosphate synthetase I. A novel marker for gastric carcinoma. Liu, T.H., Li, D.C., Gu, C.F., Ye, S.F. Chin. Med. J. (1989)
- Carbamoyl phosphate synthase-1: a marker of mitochondrial damage and depletion in the liver during sepsis. Crouser, E.D., Julian, M.W., Huff, J.E., Struck, J., Cook, C.H. Crit. Care Med. (2006)
- Release of the mitochondrial enzyme carbamoyl phosphate synthase under septic conditions. Struck, J., Uhlein, M., Morgenthaler, N.G., Fürst, W., Höflich, C., Bahrami, S., Bergmann, A., Volk, H.D., Redl, H. Shock (2005)
- A novel class of gene controlling virulence in plant pathogenic ascomycete fungi. Lu, S.W., Kroken, S., Lee, B.N., Robbertse, B., Churchill, A.C., Yoder, O.C., Turgeon, B.G. Proc. Natl. Acad. Sci. U.S.A. (2003)
- Prenatal diagnosis of carbamoyl phosphate synthetase I deficiency by identification of a missense mutation in CPS1. Finckh, U., Kohlschütter, A., Schäfer, H., Sperhake, K., Colombo, J.P., Gal, A. Hum. Mutat. (1998)
- Carbamoyl phosphate synthetase I deficiency: molecular genetic findings and prenatal diagnosis. Aoshima, T., Kajita, M., Sekido, Y., Mimura, S., Itakura, A., Yasuda, I., Saheki, T., Watanabe, K., Shimokata, K., Niwa, T. Prenat. Diagn. (2001)
- Molecular cloning, identification and characteristics of a novel isoform of carbamyl phosphate synthetase I in human testis. Huo, R., Zhu, H., Lu, L., Ying, L., Xu, M., Xu, Z., Li, J., Zhou, Z., Sha, J. J. Biochem. Mol. Biol. (2005)
- Gene structure of human carbamylphosphate synthetase 1 and novel mutations in patients with neonatal onset. Häberle, J., Schmidt, E., Pauli, S., Rapp, B., Christensen, E., Wermuth, B., Koch, H.G. Hum. Mutat. (2003)
- Structural organization of the human carbamyl phosphate synthetase I gene (CPS1) and identification of two novel genetic lesions. Funghini, S., Donati, M.A., Pasquini, E., Zammarchi, E., Morrone, A. Hum. Mutat. (2003)
- Genetic analysis of carbamoylphosphate synthetase I and ornithine transcarbamylase deficiency using fibroblasts. Rapp, B., Häberle, J., Linnebank, M., Wermuth, B., Marquardt, T., Harms, E., Koch, H.G. Eur. J. Pediatr. (2001)
- Physical and linkage mapping of human carbamyl phosphate synthetase I (CPS1) and reassignment from 2p to 2q35. Summar, M.L., Dasouki, M.J., Schofield, P.J., Krishnamani, M.R., Vnencak-Jones, C., Tuchman, M., Mao, J., Phillips, J.A. Cytogenet. Cell Genet. (1995)
- Detection of carbamyl phosphate synthetase 1 deficiency using duodenal biopsy samples. Hoogenraad, N.J., Mitchell, J.D., Don, N.A., Sutherland, T.M., Mc Leay, A.C. Arch. Dis. Child. (1980)
- Assignment of the human carbamyl phosphate synthetase I gene (CPS1) to 2q35 by fluorescence in situ hybridization. Hoshide, R., Soejima, H., Ohta, T., Niikawa, N., Haraguchi, Y., Matsuura, T., Endo, F., Matsuda, I. Genomics (1995)