| Type | Description |
|---|---|
| Definition | tyrosine aminotransferase |
| Date | Results | Publications |
|---|---|---|
| 2018-05-05 10:03:00 | Data analysis did not reveal a genotype-phenotype correlation, but stressed the need of early diagnosis: All patients improved the oculocutaneous lesions after dietary treatment but neurological symptoms prevailed. The discovery of founder mutations in isolated populations, and the benefits of early intervention, should increase diagnostic awareness in newborns. | 28255985 |
| 2017-04-08 12:17:00 | Sequencing of TAT indicated two new homozygous mutations p.L312P (c.935T>C) and p.T408M (c.1223C>T) for the proband and his asymptomatic sister. | 27285949 |
| 2013-11-02 11:43:00 | Two known mutations and one novel mutation was found in the TAT gene of Tunesian Richner-Hanhart syndrome patients. The geographical distribution of RHS mutations shows regional specificities. | 23954227 |
| 2012-03-03 11:44:00 | A paternal inherited frameshift mutation c.1213delCinsAG at codon 405 causing a premature stop codon, and a maternally inherited deletion of 193kb encompassing the complete TAT gene yield the first complete TAT deletion in tyrosinaemia type II described. | 21636300 |
| 2010-05-31 11:07:00 | tumor suppressive mechanism of TAT was associated with its proapoptotic role in a mitochondrial-dependent manner by promoting cytochrome-c release and activating caspase-9 and | 20209601 |
| Type | IDs |
|---|---|
| Gene |
UniProtKB-ID:
ATTY_HUMAN,
A0A140VKB7_HUMAN
UniprotKB:
P17735,
A0A140VKB7
UniParc:
UPI0000126636
EMBL:
HM005657,
CH471166,
X55675,
X52510,
X52512,
X52513,
X52520,
X52511,
X52509,
X52519,
X52516,
X52518,
X52517,
X52515,
X52514,
AK313380
Ensembl:
ENSG00000198650
KO:
hsa:6898
|
| Nucleutide sequences |
EMBL-CDS:
EAW59231.1,
CAA36749.1,
EAW59230.1,
CAA39210.1,
BAG36178.1,
CAA36750.1,
AEE61254.1
Ensembl_TRS:
ENST00000355962
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000348234
RefSeq:
NP_000344.1
|
| Others |
UniRef100:
UniRef100_P17735
UniRef90:
UniRef90_P17735
UniRef50:
UniRef50_P17735
UniGene:
Hs.161640
CCDS:
CCDS10903.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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