NDUFS8
  • 30
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
NDUFS8 (HGNC:7715) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
NADH:ubiquinone oxidoreductase core subunit S8
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
TYKY, CI-23k
%HI
51.99(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0.03(Read more about gnomAD pLI score)
LOEUF
0.78(Read more about gnomAD LOEUF score)
Cytoband
11q13.2
Genomic Coordinates
GRCh37/hg19: chr11:67798148-67804111 NCBI Ensembl UCSC
GRCh38/hg38: chr11:68030681-68036644 NCBI Ensembl UCSC
MANE Select Transcript
NM_002496.4 ENST00000313468.10 (Read more about MANE Select)
Function
Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) which catalyzes electron transfer from NADH through the respiratory chain, using ubiquinone as an electron acceptor (PubMed:22499348). Essential for the catalytic activity and assembly of complex I (PubMed:22499348). {ECO:0000269|PubMed:22499348}. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-13801
ClinGen Curation ID:
CCID:007538
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Read full report...
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Read full report...
Last Evaluated:
08/22/2016

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)

Genomic View

Select assembly: (NC_000011.9) (NC_000011.10)