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The transcribed protein is the first and rate-limiting enzyme in tetrahydrobiopterin (THB, BH 4) biosynthesis, catalyzing the conversion of GTP into 7,8-DHNP-3'-TP. THB is an essential cofactor required by the aromatic amino acid hydroxylase (AAAH) and nitric oxide synthase (NOS) enzymes in the biosynthesis of the monoamine neurotransmitters serotonin (5-hydroxytryptamine (5-HT)), melatonin ...
Mutations in the GCH1, PCBD1, PTS and QDPR genes directly cause BH4 deficiency. Additionally, mutations of the MTHFR gene (A1298C variant) and DHFR can interfere with the recycling of BH4 and lead to less severe, but still clinifically significant, deficiencies of BH4.
Thus, according to data gathered by the year 2021, the average delay of diagnosis ranged from 8 [1] to 10 [2] years. According to a consensus guideline on BH 4 deficiency published in 2020, if the presence of AD-GTPCHD is suspected, a genetic assessment should be carried out to look for mutations of the GTPCH1 gene. [ 2 ]
The prototypical compound of the class is biopterin (6-(1,2-dihydroxypropyl)-pterin), as shown in the infobox. Biopterins act as cofactors for aromatic amino acid hydroxylases (AAAH), which are involved in synthesizing a number of neurotransmitters including dopamine, norepinephrine, epinepherine, and serotonin, along with several trace amines.
Tetrahydrobiopterin (BH 4, THB), also known as sapropterin (), [5] [6] is a cofactor of the three aromatic amino acid hydroxylase enzymes, [7] used in the degradation of amino acid phenylalanine and in the biosynthesis of the neurotransmitters serotonin (5-hydroxytryptamine, 5-HT), melatonin, dopamine, norepinephrine (noradrenaline), epinephrine (adrenaline), and is a cofactor for the ...
The precursor of the neurotransmitter dopamine, L-dopa, is synthesised from tyrosine by the enzyme tyrosine hydroxylase and utilises tetrahydrobiopterin (BH4) as a cofactor. A mutation in the gene GCH1 , which encodes the enzyme GTP cyclohydrolase I , disrupts the production of BH4, decreasing dopamine levels (hypodopaminergia).
Dihydrofolate reductase, or DHFR, is an enzyme that reduces dihydrofolic acid to tetrahydrofolic acid, using NADPH as an electron donor, which can be converted to the kinds of tetrahydrofolate cofactors used in one-carbon transfer chemistry. In humans, the DHFR enzyme is encoded by the DHFR gene. [5] [6] It is found in the q14.1 region of ...
110391 Ensembl ENSG00000151552 ENSMUSG00000015806 UniProt P09417 Q8BVI4 RefSeq (mRNA) NM_000320 NM_001306140 NM_024236 RefSeq (protein) NP_000311 NP_001293069 NP_077198 Location (UCSC) Chr 4: 17.46 – 17.51 Mb Chr 5: 45.59 – 45.61 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse QDPR (quinoid dihydropteridine reductase) is a human gene that produces the enzyme quinoid ...