Pterin-4-alfa-karbinolamin dehidrataza je enzim koji je kod ljudi kodiran genom PCBD1.[5][6]
Kratke činjenice Dostupne strukture, PDB ...
Zatvori
Dužina polipeptidnog lanca je 104 aminokiseline, а molekulska težina 12.000 Da.[7]
| 10 | | 20 | | 30 | | 40 | | 50 |
|---|
| MAGKAHRLSA | | EERDQLLPNL | | RAVGWNELEG | | RDAIFKQFHF | | KDFNRAFGFM |
| TRVALQAEKL | | DHHPEWFNVY | | NKVHITLSTH | | ECAGLSERDI | | NLASFIEQVA |
| VSMT |
Ovaj gen kodira pterin-4 alfa-karbinolamin dehidratazu, enzim uključen u hidroksilaciju fenilalanina. Nedostatak ovog enzima dovodi do hiperfenilalaninemije. Enzim regulira homodimerizaciju jedarnog faktora 1 hepatocitnog transkripcijskog faktora (HNF1).[6]
Dokazano je da PCBD1 ima interakcije sa DYRK1B [8] i HNF1A.[9][10]
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- Suck D, Ficner R (Jun 1996). "Structure and function of PCD/DCoH, an enzyme with regulatory properties". FEBS Letters. 389 (1): 35–9. doi:10.1016/0014-5793(96)00573-X. PMID 8682201. S2CID 43378844.
- Thöny B, Auerbach G, Blau N (Apr 2000). "Tetrahydrobiopterin biosynthesis, regeneration and functions". The Biochemical Journal. 347 Pt 1 (1): 1–16. doi:10.1042/0264-6021:3470001. PMC 1220924. PMID 10727395.
- Mendel DB, Khavari PA, Conley PB, Graves MK, Hansen LP, Admon A, Crabtree GR (Dec 1991). "Characterization of a cofactor that regulates dimerization of a mammalian homeodomain protein". Science. 254 (5039): 1762–7. doi:10.1126/science.1763325. PMID 1763325.
- Thöny B, Neuheiser F, Blau N, Heizmann CW (maj 1995). "Characterization of the human PCBD gene encoding the bifunctional protein pterin-4 alpha-carbinolamine dehydratase/dimerization cofactor for the transcription factor HNF-1 alpha". Biochemical and Biophysical Research Communications. 210 (3): 966–73. doi:10.1006/bbrc.1995.1751. PMID 7763270.
- Thöny B, Heizmann CW, Mattei MG (Jan 1994). "Chromosomal location of two human genes encoding tetrahydrobiopterin-metabolizing enzymes: 6-pyruvoyl-tetrahydropterin synthase maps to 11q22.3-q23.3, and pterin-4 alpha-carbinolamine dehydratase maps to 10q22". Genomics. 19 (2): 365–8. doi:10.1006/geno.1994.1071. PMID 8188266.
- Citron BA, Kaufman S, Milstien S, Naylor EW, Greene CL, Davis MD (Sep 1993). "Mutation in the 4a-carbinolamine dehydratase gene leads to mild hyperphenylalaninemia with defective cofactor metabolism". American Journal of Human Genetics. 53 (3): 768–74. PMC 1682436. PMID 8352282.
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- Bonaldo MF, Lennon G, Soares MB (Sep 1996). "Normalization and subtraction: two approaches to facilitate gene discovery". Genome Research. 6 (9): 791–806. doi:10.1101/gr.6.9.791. PMID 8889548.
- Sourdive DJ, Transy C, Garbay S, Yaniv M (Apr 1997). "The bifunctional DCOH protein binds to HNF1 independently of its 4-alpha-carbinolamine dehydratase activity". Nucleic Acids Research. 25 (8): 1476–84. doi:10.1093/nar/25.8.1476. PMC 146627. PMID 9092652.
- Johnen G, Kaufman S (Dec 1997). "Studies on the enzymatic and transcriptional activity of the dimerization cofactor for hepatocyte nuclear factor 1". Proceedings of the National Academy of Sciences of the United States of America. 94 (25): 13469–74. doi:10.1073/pnas.94.25.13469. PMC 28329. PMID 9391049.
- Thöny B, Neuheiser F, Kierat L, Blaskovics M, Arn PH, Ferreira P, Rebrin I, Ayling J, Blau N (Jun 1998). "Hyperphenylalaninemia with high levels of 7-biopterin is associated with mutations in the PCBD gene encoding the bifunctional protein pterin-4a-carbinolamine dehydratase and transcriptional coactivator (DCoH)". American Journal of Human Genetics. 62 (6): 1302–11. doi:10.1086/301887. PMC 1377166. PMID 9585615.
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