Regular ArticleCharacterization of the Human PCBD Gene Encoding the Bifunctional Protein Pterin-4α-carbinolamine Dehydratase/Dimerization Cofactor for the Transcription Factor Hnf-1α
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Molecular and metabolic bases of tetrahydrobiopterin (BH<inf>4</inf>) deficiencies
2021, Molecular Genetics and MetabolismCitation Excerpt :Defects in PCBD1 result in BH4 deficiency [84]. The protein-coding sequence spans 4 exons and includes 315 bases with exon 1 containing only the ATG start codon (NM_000281.2) [85–87]. A total of 32 variants in PCBD1 are presented in Fig. 6 and Supplementary Table S4, including the following alterations: 7 missense, 3 nonsense, 3 frameshifts (deletions), 1 in-frame, 3 synonymous, 8 extensions, and 7 with unknown effect.
Role of tetrachloro-1,4-benzoquinone reductase in phenylalanine hydroxylation system and pentachlorophenol degradation in Bacillus cereus AOA-CPS1
2020, International Journal of Biological MacromoleculesCitation Excerpt :The recombinant CpsD protein was purified to homogeneity and showed Mr of ≅12,500 (Fig. 1C). The CpsD exists in a monomeric form similar to PCD/DCoH from Mortierella alpina [4] and multimeric form with Mr of ≅130,000 (Fig. 1D) in accordance to PCD/DCoH from mammalian and other higher animals [1,4,23,39–50]. A single-step purification strategy (affinity chromatography) purified the enzyme 10.41-fold with a total yield of 35% (Table 1).
Human sphingosine-1-phosphate lyase: cDNA cloning, functional expression studies and mapping to chromosome 10q22
2000, Biochimica et Biophysica Acta - Molecular and Cell Biology of LipidsMolecular characterization of the Drosophila melanogaster gene encoding the pterin 4α-carbinolamine dehydratase
1998, Biochimica et Biophysica Acta - Protein Structure and Molecular EnzymologyHuman white blood cells and hair follicles are good sources of mRNA for the pterin carbinolamine dehydratase/dimerization cofactor of HNF1 for mutation detection
1998, Biochemical and Biophysical Research Communications