NDUFV1 |
- 30
Haplo
Score - 0
Triplo
Score
Gene Facts External Data Attribution
- HGNC Symbol
- NDUFV1 (HGNC:7716) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
- HGNC Name
- NADH:ubiquinone oxidoreductase core subunit V1
- Gene type
- protein-coding gene
- Locus type
- gene with protein product
- Previous symbols
- No previous names found
- Alias symbols
- CI-51K
- %HI
- 37.98(Read more about the DECIPHER Haploinsufficiency Index)
- pLI
- 0(Read more about gnomAD pLI score)
- LOEUF
- 1.09(Read more about gnomAD LOEUF score)
- Cytoband
- 11q13.2
- Genomic Coordinates
-
GRCh37/hg19: chr11:67374407-67380025 NCBI Ensembl UCSC GRCh38/hg38: chr11:67606936-67612554 NCBI Ensembl UCSC - MANE Select Transcript
- NM_007103.4 ENST00000322776.11 (Read more about MANE Select)
- Function
- Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) which catalyzes electron transfer from NADH through the respiratory chain, using ubiquinone as an electron acceptor (PubMed:28844695). Part of the peripheral arm of the enzyme, where the electrons from NADH are accepted by flavin mononucleotide (FMN) and then passed along a chain of iron-sulfur clusters by electron tunnelling to the final acceptor ubiquinone (PubMed:28844695). Contains FMN, which is the i... (Source: Uniprot)
Dosage Sensitivity Summary (Gene)
Dosage ID:
ISCA-16365
ClinGen Curation ID:
CCID:007539
Curation Status:
Complete
Issue Type:
Dosage Curation -
Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype
(30)
Triplosensitivity:
No Evidence for Triplosensitivity
(0)
Last Evaluated:
03/22/2012
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
HI Evidence Comments:
Homozygous loss of function mutations in NDUFV1 are associated with the autosomal recessive condition mitochondrial complex I deficiency (Leigh syndrome). See Pagniez-Mammeri, et al (2012), PMID: 21703028 for review of disorder and mutations in NDUFV1.
Triplosensitivity (TS) Score Details
TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
Genomic View
Select assembly:
(NC_000011.9)
(NC_000011.10)