GCH1

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is agene
is mentioned by
Full nameGTP cyclohydrolase 1
Other namesGCH GTPCH
RelatedGCHFR
EntrezGene2643
PheGenI2643
VariationViewer2643
dbSNP2643
SADR2643
HugeNav2643
wikipediaGCH1
googleGCH1
gopubmedGCH1
EVSGCH1
HEFalMpGCH1
23andMeGCH1
UniProtP30793
EnsemblENSG00000131979
OMIM600225
EVSGCH1
# SNPs28
  Max Magnitude Chromosome position Summary
Rs10483639 55,306,457
Rs104894433 0 55,369,120
Rs104894434 0 55,310,826
Rs104894435 0 55,369,059
Rs104894436 0 55,312,526
Rs104894437 0 55,332,097
Rs104894438 0 55,312,510
Rs104894439 0 55,369,379
Rs104894440 0 55,332,067
Rs104894441 0 55,332,094
Rs104894442 0 55,310,741
Rs104894443 0 55,310,855
Rs104894444 0 55,369,240
Rs104894445 0 55,312,561
Rs12147422 55,344,015
Rs137852633 0 55,312,517
Rs17738966 0 55,302,219
Rs2878172 55,373,670
Rs3783637 55,348,118
Rs3783641 55,360,139
Rs41298442 0 55,310,817
Rs4411417 55,320,563
Rs7142517 55,306,804
Rs752688 55,311,569
Rs8007201 55,324,848
Rs8007267 55,378,991
Rs841 55,310,492
Rs998259 55,355,031
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.