Carbamoyl phosphate synthetase deficiency (CPSD) is an autosomal recessive disorder of ureagenesis. Untreated patients with complete CPSD die as neonates of hyperammonemia. Since CPS is not expressed in amniocytes, prenatal detection is limited to in utero liver biopsy. To determine if the CPS ...
The function of the molecular tunnel of carbamoyl phosphate synthetase is perhaps the most well characterized system for the channeling of ammonia. CPS has the most complex tunnel in that three active sites are connected by two tunnel segments that traverse a distance of nearly 100 Å....
Defects in CPS1 are the cause of carbamoyl phosphate synthetase 1 deficiency (CPS1D). CPS1D is an autosomal recessive disorder of the urea cycle causing hyperammonemia. Clinical features include protein intolerance, intermittent ataxia, seizures, lethargy, developmental delay and mental retardation. ...
About this entry Cite this entry Noroozi, A., Barzegary, A., Karimi, A., Rezaei, N. (2023). Carbamoyl Phosphate Synthetase I Deficiency. In: Rezaei, N. (eds) Genetic Syndromes. Springer, Cham. https://doi.org/10.1007/978-3-319-66816-1_1727-1 Download citation .RIS .BIB DOIhttps...
CPS-1:carbamoyl phosphate synthetase,氨甲酰磷酸合成酶 相关知识点: 试题来源: 解析 多肽链主链上的Cα原子位于相邻两个肽平面的连接处,Cα-N和Cα-C均为单键,可自由旋转。其中一个肽平面可以围绕Cα-C单键旋转,其旋转角度称Ψ(Psi);另一个肽平面可以围绕Cα-N单键旋转,其旋转角度称Φ(Phi)。由于Φ...
Carbamoyl-phosphate synthetase II in kinetoplastids 1 Nucleotide sequence data reported in this paper are available in the EMBL, GenBank and DDBJ databases under accession Nos. AB005062 and AB005063 for carbamoyl-phosphate synthetase II ... Genes for carbamoyl-phosphate synthetase II (CPS II), ...
1) carbamoyl phosphate synthetase,CPS 氨基甲酰磷酸合成酶 2) EC6·3·4·16 氨基甲酰磷酸合成酶Ⅰ 3) carbamyl phosphate synthetase 氨甲酰磷酸合成酶 4) EC6·3·5·5 氨基甲酰磷酸合成酰Ⅱ 5) phosphatidylserine synthase 磷脂酰丝氨酸合成酶
9 RegisterLog in Sign up with one click: Facebook Twitter Google Share on Facebook Also found in:Thesaurus,Medical,Encyclopedia,Wikipedia. car·bam·o·yl (kär-băm′ō-ĭl′) n. The univalent organic group NH2CO-. [carbam(ic acid)+-yl.] ...
Use of carbamoyl phosphate synthetase 1 (CPS 1) and/or of fragments of the N-terminal part of CPS 1 from body fluids or body tissues as marker peptides for the diagnosis and for the prognosis and the monitoring of inflammations and infections, including sepsis, and of liver failure as par...
Huizing2, Gema E. González-Luis4, Fabio Mosca3 & Eduardo Villamor2 The p.Thr1406Asn (rs1047891) polymorphism of the carbamoyl-phosphate synthetase 1 (CPS1) gene has been linked to functional consequences affecting the downstream availability of the nitric oxide precursor L-arginine...