GCH1

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Full nameGTP cyclohydrolase 1
Other namesGCH GTPCH
RelatedGCHFR
EntrezGene2643
PheGenI2643
VariationViewer2643
ClinVarGCH1
dbSNP2643
SADR2643
HugeNav2643
wikipediaGCH1
googleGCH1
gopubmedGCH1
EVSGCH1
HEFalMpGCH1
23andMeGCH1
UniProtP30793
EnsemblENSG00000131979
OMIM600225
EVSGCH1
# SNPs29
 Max MagnitudeChromosome positionSummary
Rs1048363954,839,739
Rs10489443354,902,402
Rs10489443454,844,108
Rs10489443554,902,341
Rs10489443654,845,808
Rs10489443754,865,379
Rs10489443854,845,792
Rs10489443954,902,661
Rs10489444054,865,349
Rs10489444154,865,376
Rs10489444254,844,023
Rs10489444354,844,137
Rs10489444454,902,522
Rs10489444554,845,843
Rs1214742254,877,297
Rs13785263354,845,799
Rs1773896654,835,501
Rs287817254,906,952
Rs375966454,904,861
Rs378363754,881,400
Rs378364154,893,421
Rs4129844254,844,099
Rs441141754,853,845
Rs714251754,840,086
Rs75268854,844,851
Rs800720154,858,130
Rs800726754,912,273
Rs84154,843,774
Rs99825954,888,313
GCH1 is the gene responsible for the first, and rate-limiting, step in producing tetrahydrobiopterin (BH4) which is used as a cofactor in the production or conversion of several neurotransmitters.

Please note that reference GCH1 sequences use the reverse strand. Many journal articles will use minus orientation when reporting results, even for cases where the dbSNP orientation is plus. Some of the significant SNPs in this gene have ambiguous flips which can make interpreting things difficult.

GCH1 activity is regulated by GCHFR.

SNPs are common in the GCH1 gene, and most are benign. However, there are both rare and not-so-rare variants that have clinical consequences.

Rare variants associated with dystonia include:

Certain more common variants include:

  • The variants comprising the "X" haplotype
    • The 3 SNPs defining this are: rs8007267(T) - rs3783641(A) - rs10483639(C) (listed in 5' to 3' order based on the GCH1 gene on the reverse strand, and, with alleles as defined in dbSNP on the forward strand)
  • rs841, which is in tight (~85 - 95%) linkage with the X haplotype