RecName: Full=Multifunctional protein CAD; AltName: Full=Carbamoyl pho - Protein

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Beyond genetics: Deciphering the impact of missense variants in CAD deficiency. [J Inherit Metab Dis. 2023]
Beyond genetics: Deciphering the impact of missense variants in CAD deficiency.
Del Caño-Ochoa F, Ng BG, Rubio-Del-Campo A, Mahajan S, Wilson MP, Vilar M, Rymen D, Sánchez-Pintos P, Kenny J, Ley Martos M, et al. J Inherit Metab Dis. 2023 Nov; 46(6):1170-1185. Epub 2023 Sep 11.
Deciphering CAD: Structure and function of a mega-enzymatic pyrimidine factory in health and disease. [Protein Sci. 2021]
Deciphering CAD: Structure and function of a mega-enzymatic pyrimidine factory in health and disease.
Del Caño-Ochoa F, Ramón-Maiques S. Protein Sci. 2021 Oct; 30(10):1995-2008. Epub 2021 Jul 22.
Uridine treatment normalizes the congenital dyserythropoietic anemia type II-like hematological phenotype in a patient with homozygous mutation in the CAD gene. [Am J Hematol. 2020]
Uridine treatment normalizes the congenital dyserythropoietic anemia type II-like hematological phenotype in a patient with homozygous mutation in the CAD gene.
Russo R, Marra R, Andolfo I, Manna F, De Rosa G, Rosato BE, Radhakrishnan K, Fahey M, Iolascon A. Am J Hematol. 2020 Nov; 95(11):1423-1426. Epub 2020 Aug 19.

RefSeq genomic sequence
See the genomic reference sequence for the CAD gene (NG_046394.1).
RefSeq protein isoforms
See 6 reference sequence protein isoforms for the CAD gene.

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MODBASE, Database of Comparative Protein Structure Models (Sali Lab/UCSF) [MODBASE, Database of Comparat...]
MODBASE, Database of Comparative Protein Structure Models (Sali Lab/UCSF)
Transcript/Protein Information [PANTHER Classification System]
Transcript/Protein Information
PANTHER Classification System
Reactome [Reactome]
Reactome
reagent reviews [ExactAntigen/Labome]
reagent reviews
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reagents [ExactAntigen/Labome]
reagents
ExactAntigen/Labome

RecName: Full=Multifunctional protein CAD; AltName: Full=Carbamoyl phosphate syn...
RecName: Full=Multifunctional protein CAD; AltName: Full=Carbamoyl phosphate synthetase 2-aspartate transcarbamylase-dihydroorotase; Includes: RecName: Full=Glutamine-dependent carbamoyl phosphate synthase; Includes: RecName: Full=Glutamine amidotransferase; Short=GATase; Short=GLNase; Includes: RecName: Full=Ammonium-dependent carbamoyl phosphate synthase; Short=CPS; Short=CPSase; Includes: RecName: Full=Aspartate carbamoyltransferase; Includes: RecName: Full=Dihydroorotase
gi|50403731|sp|P27708.3|PYR1_HUMAN

Protein
qm66g12.x1 Soares_placenta_8to9weeks_2NbHP8to9W Homo sapiens cDNA clone IMAGE:18...
qm66g12.x1 Soares_placenta_8to9weeks_2NbHP8to9W Homo sapiens cDNA clone IMAGE:1893766 3', mRNA sequence
gi|3918470|gnl|dbEST|2053629|gb|AI2 .1|

Nucleotide
PPIP5K1P1 diphosphoinositol pentakisphosphate kinase 1 pseudogene 1 [Homo sapien...
PPIP5K1P1 diphosphoinositol pentakisphosphate kinase 1 pseudogene 1 [Homo sapiens]
Gene ID:554224

Gene

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Protein