| Type | Description |
|---|---|
| Definition | NADH:ubiquinone oxidoreductase complex assembly factor 6 |
| Date | Results | Publications |
|---|---|---|
| 2019-11-09 11:59:00 | NDUFAF6-related Leigh syndrome is a relevant cause of childhood onset dystonia and isolated bilateral striatal necrosis [review] | 30642748 |
| 2018-03-17 12:04:00 | NDUFAF6 encodes a complex I assembly factor and mutations result in complex I deficiency, Leigh syndrome or Acadian variant Fanconi syndrome. Human NDUFAF6 is a mitochondria-targeted 333-amino acid protein belonging to the family of squalene and phytoene synthases. | 28476317 |
| 2017-11-25 13:18:00 | This paper confirms NDUFAF6 as a genuine morbid gene and proposes the coupling of exome sequencing with mRNA analysis as a method useful for enhancing the exome sequencing detection rate when the simple application of classical inheritance models fails. | 27623250 |
| 2017-07-22 11:19:00 | Affected kidney and lung showed specific loss of the mitochondria-located NDUFAF6 isoform and ultrastructural characteristics of mitochondrial dysfunction. Accordingly, affected tissues had defects in mitochondrial respiration and complex I biogenesis that were corrected with NDUFAF6 cDNA transfection. Our results demonstrate that the Acadian variant of Fanconi Syndrome results from mitochondrial respiratory chain complex | 27466185 |
| 2013-06-01 11:48:00 | In a forward genetic screen to identify genes that cause neurodegeneration, we identified sicily, the Drosophila melanogaster homologue of human C8ORF38, the loss of which causes Leigh syndrome. | 23509070 |
| Type | IDs |
|---|---|
| Synonymous | C8orf38, MC1DN17 |
| Gene |
UniProtKB-ID:
NDUF6_HUMAN,
A0A075B6P0_HUMAN
UniprotKB:
Q330K2,
A0A075B6P0
UniParc:
UPI00000726FA,
UPI0000D4E6FA,
UPI00005DB2E4,
UPI0000F0A5CF
EMBL:
AK298631,
AC087752,
CH471060,
BC028166,
AC018801,
AY444560,
AC068189,
KF458801
Ensembl:
ENSG00000156170
KO:
hsa:137682
|
| Nucleutide sequences |
EMBL-CDS:
AAH28166.1,
BAG60807.1,
AAS68536.1,
EAW91734.1
Ensembl_TRS:
ENST00000518258,
ENST00000396124,
ENST00000523337,
ENST00000396113,
ENST00000396111
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000429038,
ENSP00000428788,
ENSP00000379430,
ENSP00000379419,
ENSP00000379417
RefSeq:
NP_001341456.1,
NP_001341448.1,
NP_001341454.1,
NP_001341462.1,
NP_001341457.1,
NP_001341445.1,
NP_001341444.1,
NP_001341447.1,
NP_001341443.1,
NP_001341450.1,
NP_001341463.1,
NP_001341446.1,
NP_001341461.1,
NP_001341451.1,
NP_689629.2,
NP_001341459.1,
NP_001341453.1,
NP_001341458.1,
NP_001317511.1,
NP_001341460.1
|
| Others |
UniRef100:
UniRef100_Q330K2,
UniRef100_A0A075B6P0
UniRef90:
UniRef90_Q330K2,
UniRef90_A0A075B6P0
UniRef50:
UniRef50_Q330K2,
UniRef50_G5C4B5
UniGene:
Hs.729144
CCDS:
CCDS6266.2
|
| {{proteinIndex+1}} | mRNA | Protein | UniprotKB | Description | ||||
|---|---|---|---|---|---|---|---|---|
| Refseq |
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