| Type | Description |
|---|---|
| Definition | fumarylacetoacetate hydrolase |
| Date | Results | Publications |
|---|---|---|
| 2021-04-17 13:16:00 | Therapeutic Targeting of Fumaryl Acetoacetate Hydrolase in Hereditary Tyrosinemia Type I. | 33670179 |
| 2021-03-13 13:22:00 | E3 Ubiquitin Ligase APC/C(Cdh1) Negatively Regulates FAH Protein Stability by Promoting Its Polyubiquitination. | 33218190 |
| 2020-08-29 12:45:00 | A liver-humanized mouse model of carbamoyl phosphate synthetase 1-deficiency. | 30843237 |
| 2020-06-27 11:44:00 | We identified pathogenic variants in 15/16 studied alleles (93.8%). Nine different variants were found. The most commonly detected HT1-causing allele was NM_000137.2(FAH):c.3G > A or p.(?) [rs766882348] (25%, n = 4/16). We also identified a novel missense variant NM_000137.2(FAH):c.36C > A or p.(Phe12Leu) in a homozygous patient with an early and fatal acute form. | 31568711 |
| 2018-09-22 10:18:00 | Altogether these findings elucidate the molecular basis of HT1 caused by the frequent FAH c.1062+5G>A mutation, and demonstrate the compensatory effect of the c.1061C>A change in promoting exon definition, thus unraveling a rare mechanism leading to FAH immune-reactive mosaicism. | 29497141 |
| Type | IDs |
|---|---|
| Gene |
UniProtKB-ID:
FAAA_HUMAN,
A0A384P5L6_HUMAN
UniprotKB:
P16930,
A0A384P5L6
UniParc:
UPI000016A8D1,
UPI000012A422
EMBL:
BX537608,
BT007160,
GQ891433,
M55150,
CH471136,
AC087761,
X51728,
AK313951,
BC002527
Ensembl:
ENSG00000103876
KO:
hsa:2184
|
| Nucleutide sequences |
EMBL-CDS:
EAW99120.1,
BAG36668.1,
AAH02527.1,
AAP35824.1,
EAW99121.1,
AAA52422.1,
CAD97795.1,
CAA36016.1,
ADO22295.1
Ensembl_TRS:
ENST00000261755,
ENST00000561421,
ENST00000407106
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000453347,
ENSP00000261755,
ENSP00000385080
RefSeq:
NP_001361306.1,
NP_000128.1,
NP_001361309.1
|
| Others |
UniRef100:
UniRef100_P16930
UniRef90:
UniRef90_P16930
UniRef50:
UniRef50_P16930
UniGene:
Hs.73875
CCDS:
CCDS10314.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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| Conserved domain | Region: {{conservedDomain.region == '' || conservedDomain.region == null ? "-": conservedDomain.region}} GFID: {{conservedDomain.gfid == '' || conservedDomain.gfid == null ? "-": conservedDomain.gfid}} Family: {{conservedDomain.family == '' || conservedDomain.family == null ? "-": conservedDomain.family}} CDD: {{conservedDomain.cdd}} - |
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