NDUFAF8 (NADH:ubiquinone oxidoreductase complex assembly factor 8)

2016-11-01  

Identity

HGNC
LOCATION
17q25.3
LOCUSID
ALIAS
C17orf89,MC1DN34

Other Information

Locus ID:

NCBI: 284184
MIM: 618461
HGNC: 33551
Ensembl: ENSG00000224877

Variants:

dbSNP: 284184
ClinVar: 284184
TCGA: ENSG00000224877
COSMIC: NDUFAF8

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000224877ENST00000431388A1L188
ENSG00000224877ENST00000576002I3L4C8

Expression (GTEx)

0
10
20
30
40
50
60

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
318660462020Pathogenic Bi-allelic Mutations in NDUFAF8 Cause Leigh Syndrome with an Isolated Complex I Deficiency.0

Citation

Dessen P

NDUFAF8 (NADH:ubiquinone oxidoreductase complex assembly factor 8)

Atlas Genet Cytogenet Oncol Haematol. 2016-11-01

Online version: http://atlasgeneticsoncology.org/gene/78589/ndufaf8