DHPR_HUMAN
Source:
PM19886704
PM23856902
Marked as 'Non-membrane protein'
Confidence:
low (only semi-automatic identification from reviews)
Search PubMed for
(RBC AND this entry)
Gene names:
QDPR
, DHPR
Protein names and data:
DHPR_HUMAN
, Dihydropteridine reductase; 1.5.1.34
, HDHPR; Quinoid dihydropteridine reductase
Lenght: 244 a.a.
Mass: 25790 Da
fasta formatted sequence
Function:
The product of this enzyme, tetrahydrobiopterin (BH-4), is an essential cofactor for phenylalanine, tyrosine, and tryptophan hydroxylases.
Catalytic activity:
A 5,6,7,8-tetrahydropteridine + NAD(P)(+) = a 6,7-dihydropteridine + NAD(P)H.
Disease:
( OMIM:
261630
612676
)
Hyperphenylalaninemia, BH4-deficient, C (HPABH4C) [MIM:261630]: Rare autosomal recessive disorder characterized by hyperphenylalaninemia and severe neurologic symptoms (malignant hyperphenylalaninemia) including axial hypotonia and truncal hypertonia, abnormal thermogenesis, and microcephaly. These signs are attributable to depletion of the neurotransmitters dopamine and serotonin, whose syntheses are controlled by tryptophan and tyrosine hydroxylases that use BH-4 as cofactor. Patients do not respond to phenylalanine-restricted diet. HPABH4C is lethal if untreated. Note=The disease is caused by mutations affecting the gene represented in this entry.
Genetic variants
14 - 14
L -> P (in HPABH4C; severe). VAR_008121
17 - 17
G -> R (in HPABH4C; severe). VAR_021767
17 - 17
G -> V (in HPABH4C; severe). VAR_008122
18 - 18
G -> D (in HPABH4C; severe). VAR_021768
23 - 23
G -> D (in HPABH4C; severe). VAR_006960
36 - 36
W -> R (in HPABH4C). VAR_006961
51 - 51
S -> T. VAR_013027
66 - 66
Q -> R (in HPABH4C; severe). VAR_021769
74 - 74
L -> P (in HPABH4C). VAR_006962
108 - 108
W -> G (in HPABH4C). VAR_006963
123 - 123
T -> TT (in HPABH4C). VAR_006964
145 - 145
P -> L (in HPABH4C). VAR_006965
149 - 149
G -> R (in HPABH4C). VAR_021770
150 - 150
Y -> C (in HPABH4C; mild). VAR_006966
151 - 151
G -> S (in HPABH4C; mild). VAR_006967
158 - 158
H -> Y (in HPABH4C; severe). VAR_006968
170 - 170
G -> S (in HPABH4C). VAR_006969
212 - 212
F -> C (in HPABH4C; mild). VAR_006970
218 - 218
G -> GITG (in HPABH4C; mild). VAR_006971
Database cross-references
UniProt:
P09417
Ensembl:
ENST00000281243
MIM:
261630
MIM:
612676
neXtProt:
NX_P09417
Antibodypedia:
P09417
(may not find the protein thus also not any antibody)
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