Type | Description |
---|---|
Definition | dihydropyrimidinase |
Date | Results | Publications |
---|---|---|
2020-03-21 10:37:00 | This study defines dihydropyrimidines as potentially cytotoxic metabolites that may offer an opportunity for therapeutic-targeting of dihydropyrimidinase activity in solid tumors. | 31853544 |
2018-09-01 12:12:00 | 4 newly identified DHP deficient patients presented with strongly elevated levels of 5,6-dihydrouracil and 5,6-dihydrothymine in urine and a highly variable clinical presentation, ranging from asymptomatic to infantile spasm and reduced white matter and brain atrophy. Analysis of the DHP gene (DPYS) showed the presence of 8 variants including 4 novel/rare missense variants and one novel deletion. | 29054612 |
2016-10-22 11:58:00 | Two unrelated pediatric DPYS deficiency cases are being described as compound heterozygotes for a novel intronic mutation c.1443+5G>A in intron 8 and a previously described missense mutation c.1001A>G (p.Q334R) in exon 6. | 26771602 |
2015-06-06 13:46:00 | Stepwise Cox regression modelling suggested that the methylation of genes HSPB1, CCND2 and DPYS contributed objective prognostic information to Gleason score and PSA with respect to prostate cancer-related death. | 25193387 |
2010-09-15 22:06:00 | Observational study and genome-wide association study of gene-disease association. (HuGE Navigator) | 20797317 |
Type | IDs |
---|---|
Synonymous | DHP, DHPase |
Gene |
UniProtKB-ID:
DPYS_HUMAN
UniprotKB:
Q14117
UniParc:
UPI000012986F
EMBL:
D78011,
BC034395,
AB004678
Ensembl:
ENSG00000147647
KO:
hsa:1807
|
Nucleutide sequences |
EMBL-CDS:
BAA33067.1,
AAH34395.1,
BAA11189.1
Ensembl_TRS:
ENST00000351513
|
Protein sequencees |
Ensembl_PRO:
ENSP00000276651
RefSeq:
XP_016868656.1,
XP_024302855.1,
XP_005250875.1,
NP_001376.1,
XP_011515205.1,
XP_006716581.1
|
Others |
UniRef100:
UniRef100_Q14117
UniRef90:
UniRef90_Q14117
UniRef50:
UniRef50_Q14117
UniGene:
Hs.443161
CCDS:
CCDS6302.1
|
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Refseq |
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