NDUFAF5
  • 30
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
NDUFAF5 (HGNC:15899) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
NADH:ubiquinone oxidoreductase complex assembly factor 5
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
C20orf7
Alias symbols
dJ842G6.1
%HI
44.44(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
1.07(Read more about gnomAD LOEUF score)
Cytoband
20p12.1
Genomic Coordinates
GRCh37/hg19: chr20:13765674-13802226 NCBI Ensembl UCSC
GRCh38/hg38: chr20:13785028-13821580 NCBI Ensembl UCSC
MANE Select Transcript
NM_024120.5 ENST00000378106.10 (Read more about MANE Select)
Function
Arginine hydroxylase involved in the assembly of mitochondrial NADH:ubiquinone oxidoreductase complex (complex I, MT- ND1) at early stages (PubMed:18940309, PubMed:27226634). Acts by mediating hydroxylation of 'Arg-111' of NDUFS7 (PubMed:27226634). May also have methyltransferase activity (Probable). {ECO:0000269|PubMed:18940309, ECO:0000269|PubMed:27226634, ECO:0000305}. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-28966
ClinGen Curation ID:
CCID:007533
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:
  • mitochondrial complex I deficiency, nuclear type 1 Monarch

Triplosensitivity (TS) Score Details

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

Genomic View

Select assembly: (NC_000020.10) (NC_000020.11)