NDUFS4
  • 30
    Haplo
    Score
  • -5
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
NDUFS4 (HGNC:7711) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
NADH:ubiquinone oxidoreductase subunit S4
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
AQDQ, CI-18
%HI
12.79(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
1.52(Read more about gnomAD LOEUF score)
Cytoband
5q11.2
Genomic Coordinates
GRCh37/hg19: chr5:52856469-52979168 NCBI Ensembl UCSC
GRCh38/hg38: chr5:53560639-53683338 NCBI Ensembl UCSC
MANE Select Transcript
NM_002495.4 ENST00000296684.10 (Read more about MANE Select)
Function
Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. Complex I functions in the transfer of electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone. {ECO:0000269|PubMed:11181577, ECO:0000269|PubMed:12611891, ECO:0000269|PubMed:9463323}. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-30168
ClinGen Curation ID:
CCID:007535
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Read full report...
Triplosensitivity:
Not Yet Evaluated
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:
  • mitochondrial complex I deficiency, nuclear type 1 Monarch

Triplosensitivity (TS) Score Details

TS Evidence Strength:
Not Yet Evaluated (Disclaimer)

Genomic View

Select assembly: (NC_000005.9) (NC_000005.10)