| Type | Description |
|---|---|
| Definition | 6-pyruvoyltetrahydropterin synthase |
| Date | Results | Publications |
|---|---|---|
| 2013-08-10 11:18:00 | Severe neurological impairment from BH4 deficiency could be prevented by newborn screening for hyperphenylalaninemia (HPA) and proper metabolic management. | 19830588 |
| 2012-06-23 10:04:00 | A total of 43 mutations were identified in the PTS gene in a screen of East Asian populations, comprising 22 previously reported mutations and 21 new discovered mutations. | 22237589 |
| 2010-12-05 22:08:00 | Observational study of gene-disease association. (HuGE Navigator) | 20877624 |
| 2010-05-31 11:25:00 | The mutant characterization of PTPS gene was coincident with other early studies in Chinese. The novel mutation L127F was considered as a pathogenetic mutation and associated with severe clinical phenotype. | 18505119 |
| 2010-01-21 00:00:00 | We suggest that the serum prolactin level may be a more sensitive marker than the CSF HVA level to guide the dose adjustment of L-Dopa/carbidopa in the management of patients with PTPS deficiency. | 17590551 |
| Type | IDs |
|---|---|
| Synonymous | PTPS |
| Gene |
UniProtKB-ID:
PTPS_HUMAN
UniprotKB:
Q03393
UniParc:
UPI000013299F
EMBL:
U63380,
M97655,
U63381,
D17400,
U63382,
EF445018,
CH471065,
AB042297,
BC018029,
U63383,
BC009686,
L76259,
D25234
Ensembl:
ENSG00000150787
KO:
hsa:5805
|
| Nucleutide sequences |
EMBL-CDS:
BAA95486.1,
EAW67195.1,
AAB64229.1,
AAH18029.1,
BAA04224.1,
BAA04959.1,
AAC16970.1,
AAA51541.1,
AAH09686.1,
ACA06065.1
Ensembl_TRS:
ENST00000280362
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000280362
RefSeq:
NP_000308.1
|
| Others |
UniRef100:
UniRef100_Q03393
UniRef90:
UniRef90_Q03393
UniRef50:
UniRef50_Q03393
UniGene:
Hs.503860
CCDS:
CCDS8359.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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