| Type | Description |
|---|---|
| Definition | NADH:ubiquinone oxidoreductase subunit B11 |
| Date | Results | Publications |
|---|---|---|
| 2020-02-08 10:53:00 | Our findings together with a review of the thirteen previously described patients demonstrate a wide spectrum of clinical features associated with NDUFB11-related complex I deficiency. However, histiocytoid cardiomyopathy and/or congenital sideroblastic anemia could be indicative for mutation in the NDUFB11 gene, while the clinical manifestation of the same mutation can be highly variable | 30423443 |
| 2017-08-05 10:08:00 | recurring mutation, c.276_278del, p.F93del, in NDUFB11, a mitochondrial respiratory complex I-associated protein encoded on the X chromosome, in 5 males with a variably syndromic, normocytic congenital sideroblastic anemia. | 27488349 |
| 2017-07-01 12:04:00 | This is the third report that describes a mutation in NDUFB11, but all are associated with a different phenotype. Our results further expand the molecular spectrum and associated clinical phenotype of NDUFB11 defects. | 27102574 |
| 2016-05-21 12:07:00 | The novel NDUFB11 mutation may cause a complex 1 deficiency in synergy with additional unknown mtDNA variants. | 25921236 |
| 2015-05-30 13:28:00 | Mutations in NDUFB11, encoding a complex I component of the mitochondrial respiratory chain, cause microphthalmia with linear skin defects syndrome. | 25772934 |
| Type | IDs |
|---|---|
| Synonymous | CI-ESSS, ESSS, MC1DN30, NP17.3, Np15, P17.3 |
| Gene |
UniProtKB-ID:
NDUBB_HUMAN
UniprotKB:
Q9NX14
UniParc:
UPI0000072489,
UPI0000048EEE
EMBL:
AF251063,
BC010665,
AK000501,
AL513366,
AF044213,
AY359056,
BC107805,
CR457239
Ensembl:
ENSG00000147123
KO:
hsa:54539
|
| Nucleutide sequences |
EMBL-CDS:
AAH10665.1,
CAG33520.1,
AAK34953.1,
AAI07806.1,
AAQ89415.1,
AAL32064.1,
BAA91208.1
Gene_ORFName:
UNQ111/PRO1064
Ensembl_TRS:
ENST00000377811,
ENST00000276062
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000276062,
ENSP00000367042
RefSeq:
NP_001129470.1,
NP_061929.2
|
| Others |
UniRef100:
UniRef100_Q9NX14
UniRef90:
UniRef90_Q9NX14
UniRef50:
UniRef50_Q9NX14
UniGene:
Hs.521969
CCDS:
CCDS48100.1,
CCDS14273.1
|
| {{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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