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)