GCH1

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is agene
is mentioned by
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
Rs104894433054,902,402
Rs104894434054,844,108
Rs104894435054,902,341
Rs104894436054,845,808
Rs104894437054,865,379
Rs104894438054,845,792
Rs104894439054,902,661
Rs104894440054,865,349
Rs104894441054,865,376
Rs104894442054,844,023
Rs104894443054,844,137
Rs104894444054,902,522
Rs104894445054,845,843
Rs1214742254,877,297
Rs137852633054,845,799
Rs17738966054,835,501
Rs287817254,906,952
Rs375966454,904,861
Rs378363754,881,400
Rs378364154,893,421
Rs41298442054,844,099
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.