| Type | Description |
|---|---|
| Definition | pyridine nucleotide-disulphide oxidoreductase domain 1 |
| Date | Results | Publications |
|---|---|---|
| 2021-04-03 13:38:00 | Myopathy associated with homozygous PYROXD1 pathogenic variants detected by genome sequencing. | 32037607 |
| 2020-09-19 16:29:00 | A siRNA-based method for efficient silencing of PYROXD1 gene expression in the colon cancer cell line HCT116. | 31502705 |
| 2019-09-21 12:34:00 | Pyroxd1 pathogenic mutations in the limb-girdle muscular dystrophy patients from Saudi Arabia and Sudan. | 30345904 |
| 2019-06-01 10:49:00 | PYROXD1 variants can cause an adult-onset slowly progressive limb-girdle muscular dystrophy-type phenotype. | 30515627 |
| 2017-05-20 12:27:00 | We characterize variants in the oxidoreductase PYROXD1 as a cause of early-onset myopathy with distinctive histopathology and introduce altered redox regulation as a primary cause of congenital muscle disease. | 27745833 |
| Type | IDs |
|---|---|
| Synonymous | MFM8 |
| Gene |
UniProtKB-ID:
PYRD1_HUMAN
UniprotKB:
Q8WU10
UniParc:
UPI00004A248A,
UPI000006CE59
EMBL:
AC006559,
AK125461,
AK025681,
CH471094,
AL832441,
BC021662
Ensembl:
ENSG00000121350
KO:
hsa:79912
|
| Nucleutide sequences |
EMBL-CDS:
CAH10632.1,
AAH21662.1,
BAB15214.1,
BAG54200.1,
EAW96428.1
Ensembl_TRS:
ENST00000240651,
ENST00000538582
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000240651,
ENSP00000438505
RefSeq:
XP_006719216.1,
NP_001337841.1,
XP_016875465.1,
NP_001337842.1,
NP_079130.2
|
| Others |
UniRef100:
UniRef100_Q8WU10
UniRef90:
UniRef90_Q8WU10
UniRef50:
UniRef50_Q8WU10
UniGene:
Hs.709545
CCDS:
CCDS31755.1,
CCDS86287.1
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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| Location | {{protein.contigId}} ( {{protein.positionStart}}..{{protein.positionEnd}} , {{protein.orientation}} ) | |||||||
| 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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