Difference between revisions of "GCH1"

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(Created page with "This gene encodes a member of the GTP cyclohydrolase family. ====Action==== The encoded protein is the first and rate-limiting enzyme in tetrahydrobiopterin (BH4) biosynthes...")
 
 
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May modify pain sensitivity and persistence <cite>1</cite>.
 
May modify pain sensitivity and persistence <cite>1</cite>.
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====Kinetics====
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KM=116 µM for GTP <cite>2</cite>.
 
====Pathways====
 
====Pathways====
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7,8-dihydroneopterin triphosphate biosynthesis
 
eNOS activation
 
eNOS activation
  
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<biblio>
 
<biblio>
 
#1 pmid=24373571
 
#1 pmid=24373571
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#2 pmid=2500984
 
</biblio>
 
</biblio>
  
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[[File:GCH1.png|GCH1 expression]]
 
[[File:GCH1.png|GCH1 expression]]
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[[Category:muscle_DEGs]]

Latest revision as of 14:34, 26 January 2018

This gene encodes a member of the GTP cyclohydrolase family.

Action

The encoded protein is the first and rate-limiting enzyme in tetrahydrobiopterin (BH4) biosynthesis, catalyzing the conversion of GTP into 7,8-dihydroneopterin triphosphate.

BH4 is an essential cofactor required by aromatic amino acid hydroxylases as well as nitric oxide synthases.

GTP + H2O = formate + 2-amino-4-hydroxy-6-(erythro-1,2,3-trihydroxypropyl)-dihydropteridine triphosphate

May modify pain sensitivity and persistence [1].

Kinetics

KM=116 µM for GTP [2].

Pathways

7,8-dihydroneopterin triphosphate biosynthesis eNOS activation

Diseases

Hyperphenylalaninemia, Bh4-Deficient, B and Dystonia, Dopa-Responsive, With Or Without Hyperphenylalaninemia.

References

  1. George SZ, Parr JJ, Wallace MR, Wu SS, Borsa PA, Dai Y, and Fillingim RB. Biopsychosocial influence on exercise-induced injury: genetic and psychological combinations are predictive of shoulder pain phenotypes. J Pain. 2014 Jan;15(1):68-80. DOI:10.1016/j.jpain.2013.09.012 | PubMed ID:24373571 | HubMed [1]
  2. Shen RS, Alam A, and Zhang YX. Human liver GTP cyclohydrolase I: purification and some properties. Biochimie. 1989 Mar;71(3):343-9. DOI:10.1016/0300-9084(89)90006-0 | PubMed ID:2500984 | HubMed [2]
All Medline abstracts: PubMed | HubMed

Expression

Upregulated - after 1 hour after exercises.

GCH1 expression