6z80
From Proteopedia
(Difference between revisions)
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<tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[https://proteopedia.org/fgij/fg.htm?mol=6z80 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=6z80 OCA], [https://pdbe.org/6z80 PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=6z80 RCSB], [https://www.ebi.ac.uk/pdbsum/6z80 PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=6z80 ProSAT]</span></td></tr> | <tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[https://proteopedia.org/fgij/fg.htm?mol=6z80 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=6z80 OCA], [https://pdbe.org/6z80 PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=6z80 RCSB], [https://www.ebi.ac.uk/pdbsum/6z80 PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=6z80 ProSAT]</span></td></tr> | ||
</table> | </table> | ||
| - | == Disease == | ||
| - | [https://www.uniprot.org/uniprot/GCH1_HUMAN GCH1_HUMAN] Defects in GCH1 are the cause of GTP cyclohydrolase 1 deficiency (GCH1D) [MIM:[https://omim.org/entry/233910 233910]; also known as atypical severe phenylketonuria due to GTP cyclohydrolase I deficiency;. GCH1D is one of the causes of malignant hyperphenylalaninemia due to tetrahydrobiopterin deficiency. It is also responsible for defective neurotransmission due to depletion of the neurotransmitters dopamine and serotonin. The principal symptoms include: psychomotor retardation, tonicity disorders, convulsions, drowsiness, irritability, abnormal movements, hyperthermia, hypersalivation, and difficulty swallowing. Some patients may present a phenotype of intermediate severity between severe hyperphenylalaninemia and mild dystonia type 5 (dystonia-parkinsonism with diurnal fluctuation). In this intermediate phenotype, there is marked motor delay, but no mental retardation and only minimal, if any, hyperphenylalaninemia.<ref>PMID:7501255</ref> <ref>PMID:9667588</ref> Defects in GCH1 are the cause of dystonia type 5 (DYT5) [MIM:[https://omim.org/entry/128230 128230]; also known as progressive dystonia with diurnal fluctuation, autosomal dominant Segawa syndrome or dystonia-parkinsonism with diurnal fluctuation. DYT5 is a DOPA-responsive dystonia. Dystonia is defined by the presence of sustained involuntary muscle contractions, often leading to abnormal postures. DYT5 typically presents in childhood with walking problems due to dystonia of the lower limbs and worsening of the dystonia towards the evening. It is characterized by postural and motor disturbances showing marked diurnal fluctuation. Torsion of the trunk is unusual. Symptoms are alleviated after sleep and aggravated by fatigue and excercise. There is a favorable response to L-DOPA without side effects.<ref>PMID:7501255</ref> <ref>PMID:7874165</ref> <ref>PMID:8957022</ref> <ref>PMID:8852666</ref> <ref>PMID:9120469</ref> <ref>PMID:9328244</ref> <ref>PMID:9778264</ref> <ref>PMID:10987649</ref> <ref>PMID:10582612</ref> <ref>PMID:10208576</ref> <ref>PMID:10076897</ref> <ref>PMID:10825351</ref> <ref>PMID:11113234</ref> <ref>PMID:12391354</ref> <ref>PMID:17101830</ref> | ||
== Function == | == Function == | ||
| - | [https://www.uniprot.org/uniprot/ | + | [https://www.uniprot.org/uniprot/GFRP_HUMAN GFRP_HUMAN] Mediates tetrahydrobiopterin inhibition of GTP cyclohydrolase 1. This inhibition is reversed by L-phenylalanine.<ref>PMID:16778797</ref> |
<div style="background-color:#fffaf0;"> | <div style="background-color:#fffaf0;"> | ||
== Publication Abstract from PubMed == | == Publication Abstract from PubMed == | ||
Current revision
stimulatory human GTP cyclohydrolase I - GFRP complex
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