Tyrosiinihydroksylaasigeeni

1.  ( on mahdollista nostaa biopteriinin pitoisuutta supplementtina:Tämä  artikkeli sinänsä koskee malariatutkimuksia.  Tietysti foolihapon käyttö tukee biopteriinin  metaboliaa ihmisellä. Tässä on hiirikoetuloksia,  miten biopteriinin saa myös kudoksissa nousemaan. Dopamiinisynteesi vaatii biopteriinin muodostusta kehossa.   "The continuous infusion of sepiapterin (a BH4 precursor) and citrulline (an arginine precursor) raised the concentrations of BH4 and arginine in both blood and tissue compartments. The restoration of systemic BH4 and arginine availability in infected mice produced only a minor improvement in whole blood nitrite concentrations, a biomarker of NO synthesis, and failed to prevent the onset of severe disease symptoms. However, sepiapterin and citrulline infusion reduced the ratio of phenylalanine to tyrosine in plasma, aortic tissue, and brain tissue. In summary, BH4 depletion in P. berghei infection may compromise both nitric oxide synthesis and phenylalanine metabolism; however, these findings require further investigation in human patients with severe malaria.")
2.  
3.  https://www.ncbi.nlm.nih.gov/pubmed/27641435
4.  TH  (11p15.5)

   Also known as

   TYH; DYT14; DYT5b

   Summary

   The protein encoded by this gene is involved in the conversion of tyrosine to dopamine. It is the rate-limiting enzyme in the synthesis of catecholamines, hence plays a key role in the physiology of adrenergic neurons. Mutations in this gene have been associated with autosomal recessive Segawa syndrome. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jul 2008]

   Expression

   Restricted expression toward adrenal (RPKM 42.8) See more

   Preferred Names

   tyrosine 3-monooxygenase

   Names

   dystonia 14

   tyrosine 3-hydroxylase

   NM_000360.4 → NP_000351.2  tyrosine 3-monooxygenase isoform b
   See identical proteins and their annotated locations for NP_000351.2
   
   Status: REVIEWED

   Description

   Transcript Variant: This variant (2) uses a different donor splice site at the first coding exon and is missing an adjacent in-frame coding exon compared to transcript variant 1, resulting in an isoform (b) missing a 31 aa segment compared to isoform a.

   Source sequence(s)

   Conserved Domains (4) summary

   TIGR01269
   Location:38 → 494

   Tyr_3_monoox; tyrosine 3-monooxygenase, tetrameric

   cd04930
   Location:38 → 159

   ACT_TH; ACT domain of the nonheme iron-dependent aromatic amino acid hydroxylase, tyrosine hydroxylases (TH)

   pfam00351
   Location:164 → 494

   Biopterin_H; Biopterin-dependent aromatic amino acid hydroxylase

   pfam12549
   Location:2 → 26

   TOH_N; Tyrosine hydroxylase N terminal