QDPR
entrez
5860
canonical
uniprot
P09417
canonical
ensembl
ENSG00000151552
resolver
ensp
ENSP00000281243
resolver
ensp
ENSP00000390944
resolver
genesymbol
QDPR
resolver
genesymbol_syn
DHPR
resolver
genesymbol_syn
SDR33C1
resolver
hgnc
HGNC:9752
resolver
uniprot
A0A140VKA9
resolver
uniprot
A8K158
resolver
uniprot
B3KW71
resolver
uniprot
Q53F52
resolver
uniprot
Q9H3M5
resolver
uniprot_entry
A0A140VKA9_HUMAN
resolver
uniprot_entry
DHPR_HUMAN
resolver
uniprot_sec
A8K158
resolver
uniprot_sec
B3KW71
resolver
uniprot_sec
Q53F52
resolver
uniprot_sec
Q9H3M5
resolver
amino_acid_sequence
MAAAAAAGEARRVLVYGGRGALGSRCVQAFRARNWWVASVDVVENEEASASIIVKMTDSFTEQADQVTAEVGKLLGEEKVDAILCVAGGWAGGNAKSKSLFKNCDLMWKQSIWTSTISSHLATKHLKEGGLLTLAGAKAALDGTPGMIGYGMAKGAVHQLCQSLAGKNSGMPPGAAAIAVLPVTLDTPMNRKSMPEADFSSWTPLEFLVETFHDWITGKNRPSSGSLIQVVTTEGRTELTPAYF
uniprot
proteins
disease_involvement
DISEASE: 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. {ECO:0000269|PubMed:10408783, ECO:0000269|PubMed:11153907, ECO:0000269|PubMed:1283784, ECO:0000269|PubMed:16917893, ECO:0000269|PubMed:2116088, ECO:0000269|PubMed:7627180, ECO:0000269|PubMed:8326489, ECO:0000269|PubMed:9744478}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
1.5.1.34
uniprot
proteins
function
FUNCTION: Catalyzes the conversion of quinonoid dihydrobiopterin into tetrahydrobiopterin. {ECO:0000269|PubMed:3033643, ECO:0000269|PubMed:8262916}.
uniprot
proteins
mass_dalton
25790
uniprot
proteins
protein_family
Short-chain dehydrogenases/reductases (SDR) family
uniprot
proteins
pubmed
10408783
uniprot
proteins
pubmed
11153907
uniprot
proteins
pubmed
1283784
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15815621
uniprot
proteins
pubmed
16917893
uniprot
proteins
pubmed
19413330
uniprot
proteins
pubmed
2116088
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22223895
uniprot
proteins
pubmed
22814378
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
3031582
uniprot
proteins
pubmed
3033643
uniprot
proteins
pubmed
7627180
uniprot
proteins
pubmed
8262916
uniprot
proteins
pubmed
8326489
uniprot
proteins
pubmed
9744478
uniprot
proteins
sequence_length
244
uniprot
proteins