| Type | Description |
|---|---|
| Definition | cytochrome P450 family 2 subfamily U member 1 |
| Date | Results | Publications |
|---|---|---|
| 2019-11-30 12:20:00 | we report a novel variant (CYP2U1:c.604G>A) in a consanguineous Pakistani family manifesting features of hereditary spastic paraplegia | 31281085 |
| 2019-09-21 12:59:00 | The results suggested that SPG46 and SPG56 are rare causes of hereditary spastic paraplegia in China. | 27553021 |
| 2018-08-25 11:18:00 | Most CYP2U1 missense mutations in hereditary spastic paraplegia 56 lead to an inhibition of enzymatic activity that can be explained by the loss of proper heme binding to the protein or modification in protein structure. | 29034544 |
| 2018-06-23 10:42:00 | we report a patient with SPG56 with novel compound heterozygous mutations in CYP2U1 which were identified by whole exome sequencing. Our patient exhibited complex features together with delayed myelination, broadening the phenotypic spectrum of SPG56, and implying that CYP2U1 should be screened in HSP with delayed myelination | 28725025 |
| 2017-11-04 11:37:00 | the mode of interaction of several Fe(III)-heme ligands and substrates with the active site of CYP2U1 on the basis of spectroscopic and molecular docking data.[CYP2U1] | 27456766 |
| Type | IDs |
|---|---|
| Synonymous | P450TEC, SPG49, SPG56 |
| Gene |
UniProtKB-ID:
CP2U1_HUMAN
UniprotKB:
Q7Z449
UniParc:
UPI0000070F80,
UPI0000044231
EMBL:
BC012027,
BC132767,
BC136483,
AY343323,
CH471057
Ensembl:
ENSG00000155016
KO:
hsa:113612
|
| Nucleutide sequences |
EMBL-CDS:
AAI36484.1,
AAH12027.1,
AAI32768.1,
EAX06216.1,
AAQ21380.1
Ensembl_TRS:
ENST00000332884
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000333212
RefSeq:
NP_898898.1,
XP_005262777.1,
XP_005262774.1
|
| Others |
UniRef100:
UniRef100_Q7Z449
UniRef90:
UniRef90_Q7Z449
UniRef50:
UniRef50_Q7Z449
UniGene:
Hs.109087
CCDS:
CCDS34047.1
|
| {{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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