|Institutional Source||Beutler Lab|
|Gene Name||GTP cyclohydrolase 1|
|Is this an essential gene?||Probably essential (E-score: 0.896)|
|Stock #||R2253 (G1)|
|Chromosomal Location||47153895-47189413 bp(-) (GRCm38)|
|Type of Mutation||start gained|
|DNA Base Change (assembly)||T to C at 47189341 bp|
|Amino Acid Change|
|Ref Sequence||ENSEMBL: ENSMUSP00000087405 (fasta)|
|Gene Model||predicted gene model for transcript(s): [ENSMUST00000089959]|
|Predicted Effect||probably benign
|Coding Region Coverage||
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the GTP cyclohydrolase family. The encoded protein is the first and rate-limiting enzyme in tetrahydrobiopterin (BH4) biosynthesis, catalyzing the conversion of GTP into 7,8-dihydroneopterin triphosphate. BH4 is an essential cofactor required by aromatic amino acid hydroxylases as well as nitric oxide synthases. Mutations in this gene are associated with malignant hyperphenylalaninemia and dopa-responsive dystonia. Several alternatively spliced transcript variants encoding different isoforms have been described; however, not all variants give rise to a functional enzyme. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null mutation display bradycardia, reduced L-DOPA levels and embryonic lethality during organogenesis. [provided by MGI curators]
|Allele List at MGI|
|Other mutations in this stock||
|Other mutations in Gch1||
(F):5'- TGGTGAAGTACTGCATGGC -3'
(R):5'- AGATCCATGACGCAAGAGGC -3'
(F):5'- CCAGTTTGGGGAGGTTCACC -3'
(R):5'- GCTCCGGCCAATGAAAATATCTCG -3'