NDUFAF2 |
- 30
Haplo
Score - 0
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- NDUFAF2 (HGNC:28086) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- NADH:ubiquinone oxidoreductase complex assembly factor 2
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- NDUFA12L
- Alias symbols
- B17.2L, MMTN, mimitin
- %HI
- 53.74(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0(Read more about gnomAD pLI score)
- LOEUF
- 1.6(Read more about gnomAD LOEUF score)
- Cytoband
- 5q12.1
- Genomic Coordinates
-
GRCh37/hg19: chr5:60241032-60448853 NCBI Ensembl UCSC GRCh38/hg38: chr5:60945205-61153026 NCBI Ensembl UCSC - MANE Select Transcript
- NM_174889.5 ENST00000296597.10 (Read more about MANE Select)
- Function
- Acts as a molecular chaperone for mitochondrial complex I assembly (PubMed:16200211, PubMed:19384974). 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 (PubMed:16200211, PubMed:27626371). {ECO:0000269|PubMed:16200211, ECO:0000269|PubMed:19384974, ECO:0000269|PubMed:27626371}. (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-22576
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:
- Leigh syndrome Monarch
Triplosensitivity (TS) Score Details
TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
Genomic View
Select assembly:
(NC_000005.9)
(NC_000005.10)