NDUFAF1

  • 30
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
NDUFAF1 (HGNC:18828) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
NADH:ubiquinone oxidoreductase complex assembly factor 1
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
CIA30, CGI-65
%HI
69.41(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
0.91(Read more about gnomAD LOEUF score)
Cytoband
15q15.1
Genomic Coordinates
GRCh37/hg19: chr15:41679551-41694694 NCBI Ensembl UCSC
GRCh38/hg38: chr15:41387353-41403026 NCBI Ensembl UCSC
MANE Select Transcript
NM_016013.4 ENST00000260361.9 (Read more about MANE Select)
Function
As part of the MCIA complex, involved in the assembly of the mitochondrial complex I. {ECO:0000269|PubMed:16218961, ECO:0000269|PubMed:17557076, ECO:0000269|PubMed:32320651}. (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-32215
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Triplosensitivity:
No Evidence for Triplosensitivity (0)
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_000015.9) (NC_000015.10)