| Type | Description |
|---|---|
| Definition | hydroxymethylbilane synthase |
| Date | Results | Publications |
|---|---|---|
| 2021-01-16 15:58:00 | Severe hydroxymethylbilane synthase deficiency causes depression-like behavior and mitochondrial dysfunction in a mouse model of homozygous dominant acute intermittent porphyria. | 32197664 |
| 2020-02-08 11:29:00 | To investigate the dramatically different manifestations, knock-in mice with human homozygous dominant-Acute intermittent porphyria (HD-AIP) missense mutations c.500G>A (p.Arg167Glu) or c.518_519GC>AG (p.Arg173Glu), designated R167Q or R173Q mice, respectively, were generated and compared with the previously established T1/T2 mice with ~30% residual HMBS activity and the heterozygous AIP phenotype | 30615115 |
| 2019-04-27 10:11:00 | New bioengineered PBGD variants (for gene therapy) capable of metabolizing the toxic heme precursors produced by the liver at an increased rate were evaluated. | 30085095 |
| 2017-01-28 10:32:00 | PBGD-deficient mice showed a different response to fasting as measured by altered carbohydrate metabolism in the liver and modified glucose consumption in the brain cortex. Glucose homeostasis in fasted PBGD-deficient mice was efficiently normalized after restoration of PBGD gene expression in the liver. | 26908609 |
| 2010-07-26 11:09:00 | Porphobilinogen deaminase over-expression in hepatocytes, albeit in a low proportion, reduced precursor accumulation, which is the hallmark of acute porphyric attacks. | 19815305 |
| Type | IDs |
|---|---|
| Synonymous | PBGD, T25658, Ups, Uros1 |
| Gene |
UniProtKB-ID:
HEM3_MOUSE,
Q3UBC6_MOUSE,
Q3UPG1_MOUSE
UniprotKB:
P22907,
Q3UBC6,
Q3UPG1
UniParc:
UPI000024DFF6,
UPI000024F2C4,
UPI00005ACA81
EMBL:
AK167702,
M28665,
AK151020,
AK166734,
AK143558,
M28666,
M28664,
M28663
Ensembl:
ENSMUSG00000032126
KO:
mmu:15288
|
| Nucleutide sequences |
EMBL-CDS:
AAA39890.1,
BAE38979.1,
AAA39891.1,
BAE39746.1,
BAE30038.1,
BAE25434.1
Ensembl_TRS:
ENSMUST00000077353,
ENSMUST00000097558
|
| Protein sequencees |
Ensembl_PRO:
ENSMUSP00000076575,
ENSMUSP00000095166
RefSeq:
NP_038579.2,
NP_001103721.1
|
| Others |
UniRef100:
UniRef100_Q3UBC6,
UniRef100_P22907
UniRef90:
UniRef90_P08397
UniRef50:
UniRef50_P08397
UniGene:
Mm.247676
CCDS:
CCDS52779.1,
CCDS23106.1
|
| {{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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