GTP cyclohydrolase I

Source: Wikipedia, the free encyclopedia.
GCH1
Gene ontology
Molecular function
Cellular component
Biological process
Sources:Amigo / QuickGO
Ensembl

ENSG00000131979

ENSMUSG00000037580

UniProt

P30793

Q05915

RefSeq (mRNA)

NM_000161
NM_001024024
NM_001024070
NM_001024071

NM_008102

RefSeq (protein)

NP_000152
NP_001019195
NP_001019241
NP_001019242

NP_032128

Location (UCSC)Chr 14: 54.84 – 54.9 MbChr 14: 47.39 – 47.43 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

GTP cyclohydrolase I (GTPCH) (

7,8-dihydroneopterin triphosphate
(7,8-DHNP-3'-TP, 7,8-NH2-3'-TP).

Gene

GTPCH is

spliced transcript variants encoding different isoforms have been described; however, not all of the variants give rise to a functional enzyme.[5]

Clinical significance

At least 94 disease-causing mutations in this gene have been discovered.

autonomic dysfunction.[7] Response to treatment is variable and the long-term and functional outcome is unknown. To provide a basis for improving the understanding of the epidemiology, genotype/phenotype correlation and outcome of these diseases their impact on the quality of life of patients, and for evaluating diagnostic and therapeutic strategies a patient registry was established by the noncommercial International Working Group on Neurotransmitter Related Disorders (iNTD).[8]

Function

ExPASy
NiceZyme view
KEGGKEGG entry
MetaCycmetabolic pathway
PRIAMprofile
PDB structuresRCSB PDB PDBe PDBsum
Gene OntologyAmiGO / QuickGO
Search
PMCarticles
PubMedarticles
NCBIproteins

The

epinephrine (adrenaline), and nitric oxide (NO), respectively.[citation needed
]

GTPCH (GCH1) and tetrahydrobiopterin were found to protect against cell death by ferroptosis. Tetrahydrobiopterin (BH4) acts as a potent, diffusable antioxidant that resists oxidative stress and enables cancer cell survival.[9]

See also

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000131979 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000037580 – Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ a b "Entrez Gene: GCH1 GTP Cyclohydrolase 1 (DOPA-Responsive Dystonia)".
  6. PMID 31819097
    .
  7. S2CID 13117236
    .
  8. ^ "Patient registry".
  9. PMID 31989025
    .

Further reading

External links
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