GCH1

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is agene
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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 Magnitude Chromosome position Summary
Rs10483639 54,839,739
Rs104894433 0 54,902,402
Rs104894434 0 54,844,108
Rs104894435 0 54,902,341
Rs104894436 0 54,845,808
Rs104894437 0 54,865,379
Rs104894438 0 54,845,792
Rs104894439 0 54,902,661
Rs104894440 0 54,865,349
Rs104894441 0 54,865,376
Rs104894442 0 54,844,023
Rs104894443 0 54,844,137
Rs104894444 0 54,902,522
Rs104894445 0 54,845,843
Rs12147422 54,877,297
Rs137852633 0 54,845,799
Rs17738966 0 54,835,501
Rs2878172 54,906,952
Rs3759664 54,904,861
Rs3783637 54,881,400
Rs3783641 54,893,421
Rs41298442 0 54,844,099
Rs4411417 54,853,845
Rs7142517 54,840,086
Rs752688 54,844,851
Rs8007201 54,858,130
Rs8007267 54,912,273
Rs841 54,843,774
Rs998259 54,888,313
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.