This gene encodes a protein which is part of mitochondrial complex 1, part of the oxidative phosphorylation system in mitochondria. Complex 1 transfers electrons to ubiquinone from NADH which establishes a proton gradient for the generation of ATP. Mutations in this gene are associated with Leigh syndrome due to mitochondrial complex 1 deficiency. Pseudogenes of this gene are l... See more...

Aliases for NDUFA12 Gene

Aliases for NDUFA12 Gene

  • NADH:Ubiquinone Oxidoreductase Subunit A12 2 3 5
  • DAP13 2 3 4
  • NADH Dehydrogenase [Ubiquinone] 1 Alpha Subcomplex Subunit 12 3 4
  • NADH Dehydrogenase (Ubiquinone) 1 Alpha Subcomplex, 12 2 3
  • NADH-Ubiquinone Oxidoreductase Subunit B17.2 3 4
  • 13 KDa Differentiation-Associated Protein 3 4
  • Complex I B17.2 Subunit 2 3
  • CI-B17.2 3 4
  • B17.2 2 3
  • Complex I-B17.2 4
  • MC1DN23 3
  • NDUFA12 5
  • CIB17.2 4

External Ids for NDUFA12 Gene

Previous GeneCards Identifiers for NDUFA12 Gene

  • GC12M093868
  • GC12M095365
  • GC12M092432
  • GC12M095291

Summaries for NDUFA12 Gene

Entrez Gene Summary for NDUFA12 Gene

  • This gene encodes a protein which is part of mitochondrial complex 1, part of the oxidative phosphorylation system in mitochondria. Complex 1 transfers electrons to ubiquinone from NADH which establishes a proton gradient for the generation of ATP. Mutations in this gene are associated with Leigh syndrome due to mitochondrial complex 1 deficiency. Pseudogenes of this gene are located on chromosomes 5 and 13. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2012]

GeneCards Summary for NDUFA12 Gene

NDUFA12 (NADH:Ubiquinone Oxidoreductase Subunit A12) is a Protein Coding gene. Diseases associated with NDUFA12 include Mitochondrial Complex I Deficiency, Nuclear Type 23 and Leigh Syndrome With Leukodystrophy. Among its related pathways are Pathways of neurodegeneration - multiple diseases and Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. Gene Ontology (GO) annotations related to this gene include electron transfer activity and NADH dehydrogenase (ubiquinone) activity.

UniProtKB/Swiss-Prot Summary for NDUFA12 Gene

  • Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. 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.

Gene Wiki entry for NDUFA12 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for NDUFA12 Gene

Genomics for NDUFA12 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for NDUFA12 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH12J095002 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 274.6 +0.3 347 2.4 BCLAF1 SP1 MYC ZNF600 SSRP1 ZNF592 KLF9 POLR2A YY1 MXD4 NDUFA12 lnc-NR2C1-4 lnc-VEZT-10 METAP2 NR2C1 MN309493 TMCC3
GH12J095072 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 11.6 -69.6 -69578 3.1 BCLAF1 NCOR1 MYC SSRP1 ZNF580 ZNF592 POLR2A ZIC2 ZBTB10 YY1 HSALNG0093218-001 NR2C1 lnc-FGD6-2 VEZT NDUFA12 FGD6 RF00017-1098
GH12J095198 Enhancer 1.4 FANTOM5 ENCODE dbSUPER 14.8 -199.6 -199628 10.4 NCOR1 IKZF1 MYC ZNF592 NFIC CEBPB BHLHE40 FEZF1 TBP MNT NDUFA12 FGD6 VEZT lnc-NR2C1-5 RPL14P4 NR2C1
GH12J095172 Enhancer 1.3 Ensembl ENCODE CraniofacialAtlas dbSUPER 13.5 -169.8 -169824 2.3 NCOR1 IKZF1 ZNF10 NFIC MBD2 NFATC3 TAF9B TAL1 STAT5A SMARCA4 FGD6 VEZT NDUFA12 lnc-NR2C1-5 RPL14P4 NR2C1
GH12J095180 Enhancer 1.2 Ensembl ENCODE dbSUPER 12.7 -181.2 -181153 9.4 MYC NCOR1 IKZF1 JUND ZNF592 BHLHE40 TBP NFATC3 TAL1 ZNF316 VEZT FGD6 NDUFA12 NR2C1 ENSG00000258365 lnc-NR2C1-5 RPL14P4
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around NDUFA12 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for NDUFA12

Top Transcription factor binding sites by QIAGEN in the NDUFA12 gene promoter:
  • CBF(2)
  • CUTL1
  • FOXJ2
  • FOXJ2 (long isoform)
  • GR
  • GR-alpha
  • Ik-2
  • POU2F1
  • POU2F1a
  • TBP

Genomic Locations for NDUFA12 Gene

Latest Assembly
chr12:94,897,055-95,003,748
(GRCh38/hg38)
Size:
106,694 bases
Orientation:
Minus strand

Previous Assembly
chr12:95,365,109-95,397,473
(GRCh37/hg19 by Entrez Gene)
Size:
32,365 bases
Orientation:
Minus strand

chr12:95,290,831-95,397,546
(GRCh37/hg19 by Ensembl)
Size:
106,716 bases
Orientation:
Minus strand

Genomic View for NDUFA12 Gene

Genes around NDUFA12 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NDUFA12 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NDUFA12 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NDUFA12 Gene

Proteins for NDUFA12 Gene

  • Protein details for NDUFA12 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UI09-NDUAC_HUMAN
    Recommended name:
    NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 12
    Protein Accession:
    Q9UI09
    Secondary Accessions:
    • F8VQS7
    • Q53XX0
    • Q9BRV6

    Protein attributes for NDUFA12 Gene

    Size:
    145 amino acids
    Molecular mass:
    17114 Da
    Quaternary structure:
    • Complex I is composed of 45 different subunits.
    Miscellaneous:
    • In NDUFA12-knockout cells, complex I assembly is not affected, probably due to substitution by the NDUFAF2 paralog.

    Three dimensional structures from OCA and Proteopedia for NDUFA12 Gene

    Alternative splice isoforms for NDUFA12 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NDUFA12 Gene

Post-translational modifications for NDUFA12 Gene

  • Ubiquitination at Lys8 and Lys101
  • Modification sites at PhosphoSitePlus

Other Protein References for NDUFA12 Gene

No data available for DME Specific Peptides for NDUFA12 Gene

Domains & Families for NDUFA12 Gene

Gene Families for NDUFA12 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for NDUFA12 Gene

InterPro:
Blocks:
  • NADH:ubiquinone oxidoreductase 17.2 kD subunit

Suggested Antigen Peptide Sequences for NDUFA12 Gene

GenScript: Design optimal peptide antigens:
  • NADH-ubiquinone oxidoreductase subunit B17.2 (NDUAC_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9UI09

UniProtKB/Swiss-Prot:

NDUAC_HUMAN :
  • Belongs to the complex I NDUFA12 subunit family.
Family:
  • Belongs to the complex I NDUFA12 subunit family.
genes like me logo Genes that share domains with NDUFA12: view

Function for NDUFA12 Gene

Molecular function for NDUFA12 Gene

UniProtKB/Swiss-Prot Function:
Accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I), that is believed not to be involved in catalysis. 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.

Phenotypes From GWAS Catalog for NDUFA12 Gene

Gene Ontology (GO) - Molecular Function for NDUFA12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 32296183
GO:0008137 NADH dehydrogenase (ubiquinone) activity IEA,NAS 10830904
GO:0009055 electron transfer activity IEA --
genes like me logo Genes that share ontologies with NDUFA12: view
genes like me logo Genes that share phenotypes with NDUFA12: view

Human Phenotype Ontology for NDUFA12 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NDUFA12

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for NDUFA12 Gene

Localization for NDUFA12 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NDUFA12 Gene

Mitochondrion inner membrane. Peripheral membrane protein. Matrix side.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for NDUFA12 gene
Compartment Confidence
mitochondrion 5
cytosol 5
nucleus 2
plasma membrane 1
extracellular 1
cytoskeleton 1
peroxisome 1
endoplasmic reticulum 1
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Mitochondria (3)
  • Cytosol (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for NDUFA12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IEA,IDA --
GO:0005743 mitochondrial inner membrane IEA,TAS --
GO:0005747 mitochondrial respiratory chain complex I IMP 24746669
GO:0005829 cytosol IDA --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with NDUFA12: view

Pathways & Interactions for NDUFA12 Gene

genes like me logo Genes that share pathways with NDUFA12: view

Gene Ontology (GO) - Biological Process for NDUFA12 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006120 mitochondrial electron transport, NADH to ubiquinone TAS --
GO:0006979 response to oxidative stress IDA 12857734
GO:0007585 respiratory gaseous exchange NAS 10830904
GO:0022900 electron transport chain IEA --
GO:0032981 mitochondrial respiratory chain complex I assembly TAS --
genes like me logo Genes that share ontologies with NDUFA12: view

No data available for SIGNOR curated interactions for NDUFA12 Gene

Drugs & Compounds for NDUFA12 Gene

(6) Drugs for NDUFA12 Gene - From: DrugBank and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
NADH Approved Nutra Target 0
FAD Approved Pharma 0
Fe2+ Experimental Pharma 0
NAD Experimental Pharma 0
Ubiquinone-1 Experimental Pharma 0

(2) Additional Compounds for NDUFA12 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
QH2
  • CoQH2
  • Coenzymes QH2
  • Reduced ubiquinone
  • Ubiquinol
  • Ubiquinone-1
56275-39-9
Sulfide
  • S(2-)
  • Sulphide
  • Sulfanediide
  • Sulfur
  • Sulphide(2-)
18496-25-8
genes like me logo Genes that share compounds with NDUFA12: view

Transcripts for NDUFA12 Gene

mRNA/cDNA for NDUFA12 Gene

2 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
9 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NDUFA12

Alternative Splicing Database (ASD) splice patterns (SP) for NDUFA12 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5
SP1: -
SP2:
SP3: - -

Relevant External Links for NDUFA12 Gene

GeneLoc Exon Structure for
NDUFA12

Expression for NDUFA12 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for NDUFA12 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for NDUFA12 Gene

This gene is overexpressed in Heart - Left Ventricle (x4.0).

Protein differential expression in normal tissues from HIPED for NDUFA12 Gene

This gene is overexpressed in Nasal epithelium (33.3) and Heart (8.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for NDUFA12 Gene



Protein tissue co-expression partners for NDUFA12 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for NDUFA12

SOURCE GeneReport for Unigene cluster for NDUFA12 Gene:

Hs.506374

Evidence on tissue expression from TISSUES for NDUFA12 Gene

  • Kidney(4.5)
  • Liver(4.5)
  • Adrenal gland(4.3)
  • Muscle(2.9)
  • Heart(2.8)
  • Nervous system(2.4)
  • Skin(2.2)
  • Blood(2.1)
  • Thyroid gland(2)
  • Eye(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for NDUFA12 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
Regions:
Head and neck:
  • brain
  • cerebellum
  • cerebrospinal fluid
  • cranial nerve
  • eye
  • eyelid
  • face
  • head
  • meninges
  • neck
Thorax:
  • lung
Abdomen:
  • liver
General:
  • hair
  • peripheral nervous system
  • skin
  • spinal cord
genes like me logo Genes that share expression patterns with NDUFA12: view

Primer products for research

No data available for mRNA Expression by UniProt/SwissProt for NDUFA12 Gene

Orthologs for NDUFA12 Gene

This gene was present in the common ancestor of animals.

Orthologs for NDUFA12 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia NDUFA12 29 30
  • 99.77 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia NDUFA12 29 30
  • 91.72 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia NDUFA12 29 30
  • 91.49 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Ndufa12 29
  • 86.44 (n)
Mouse
(Mus musculus)
Mammalia Ndufa12 29 16 30
  • 85.75 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia NDUFA12 30
  • 82 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia NDUFA12 30
  • 64 (a)
OneToOne
Chicken
(Gallus gallus)
Aves NDUFA12 29 30
  • 74.07 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia NDUFA12 30
  • 73 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia ndufa12 29
  • 71.9 (n)
Str.16251 29
Zebrafish
(Danio rerio)
Actinopterygii ndufa12 29 30
  • 65.48 (n)
OneToOne
Dr.14478 29
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.358 29
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP008653 29
  • 49 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta CG3214 29 30
  • 47.62 (n)
OneToOne
Worm
(Caenorhabditis elegans)
Secernentea Y94H6A.8 29 30
  • 47.9 (n)
OneToOne
Sea Squirt
(Ciona savignyi)
Ascidiacea CSA.5209 30
  • 47 (a)
OneToOne
Species where no ortholog for NDUFA12 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for NDUFA12 Gene

ENSEMBL:
Gene Tree for NDUFA12 (if available)
TreeFam:
Gene Tree for NDUFA12 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for NDUFA12: view image
Alliance of Genome Resources:
Additional Orthologs for NDUFA12

Paralogs for NDUFA12 Gene

genes like me logo Genes that share paralogs with NDUFA12: view

No data available for Paralogs for NDUFA12 Gene

Variants for NDUFA12 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for NDUFA12 Gene

SNP ID Clinical significance and condition Chr 12 pos Variation AA Info Type
1030675 Likely Pathogenic: Mitochondrial complex 1 deficiency, nuclear type 23 95,003,612(-) A/C
NM_018838.5(NDUFA12):c.69T>G (p.Tyr23Ter)
NONSENSE
1033909 Uncertain Significance: Leigh syndrome 94,971,600(-) A/G
NM_018838.5(NDUFA12):c.278T>C (p.Met93Thr)
STOP_LOST,MISSENSE
rs1057523612 Likely Benign: not specified 95,003,724(-) C/A
NM_018838.4(NDUFA12):c.-44G>T
rs10859819 Benign: not provided 94,993,980(-) C/T
NM_018838.5(NDUFA12):c.257+190G>A
INTRON
rs114300034 Likely Benign: not provided 95,003,800(-) C/A
NC_000012.12:g.95003800C>A

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for NDUFA12 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for NDUFA12 Gene

Variant ID Type Subtype PubMed ID
esv1218332 CNV deletion 17803354
esv2662032 CNV deletion 23128226
esv2676932 CNV deletion 23128226
esv2746231 CNV deletion 23290073
esv3630426 CNV loss 21293372
nsv1071048 CNV deletion 25765185
nsv1120686 CNV deletion 24896259
nsv1123020 CNV deletion 24896259
nsv53404 CNV deletion 16902084
nsv559806 CNV loss 21841781
nsv7234 OTHER inversion 18451855

Variation tolerance for NDUFA12 Gene

Residual Variation Intolerance Score: 65.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.38; 8.31% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for NDUFA12 Gene

Human Gene Mutation Database (HGMD)
NDUFA12
SNPedia medical, phenotypic, and genealogical associations of SNPs for
NDUFA12
Leiden Open Variation Database (LOVD)
NDUFA12

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NDUFA12 Gene

Disorders for NDUFA12 Gene

MalaCards: The human disease database

(7) MalaCards diseases for NDUFA12 Gene - From: OMI, CVR, GTR, ORP, COP, and GCD

Disorder Aliases PubMed IDs
mitochondrial complex i deficiency, nuclear type 23
  • mc1dn23
leigh syndrome with leukodystrophy
  • infantile subacute necrotizing encephalopathy with leukodystrophy
leigh syndrome
  • ls
placenta praevia
  • placenta previa
hepatic coma
  • hepatocerebral intoxication
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

NDUAC_HUMAN
  • Mitochondrial complex I deficiency, nuclear type 23 (MC1DN23) [MIM:618244]: A form of mitochondrial complex I deficiency, the most common biochemical signature of mitochondrial disorders, a group of highly heterogeneous conditions characterized by defective oxidative phosphorylation, which collectively affects 1 in 5-10000 live births. Clinical disorders have variable severity, ranging from lethal neonatal disease to adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, non-specific encephalopathy, cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease. MC1DN23 transmission pattern is consistent with autosomal recessive inheritance. {ECO:0000269 PubMed:21617257}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for NDUFA12

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with NDUFA12: view

No data available for Genatlas for NDUFA12 Gene

Publications for NDUFA12 Gene

  1. Respiratory chain complex I deficiency due to NDUFA12 mutations as a new cause of Leigh syndrome. (PMID: 21617257) Ostergaard E … Nijtmans L (Journal of medical genetics 2011) 3 4 72
  2. Characterization of the human complex I NDUFB7 and 17.2-kDa cDNAs and mutational analysis of 19 genes of the HP fraction in complex I-deficient-patients. (PMID: 10830904) Triepels R … van den Heuvel L (Human genetics 2000) 2 3 4
  3. Accessory subunits are integral for assembly and function of human mitochondrial complex I. (PMID: 27626371) Stroud DA … Ryan MT (Nature 2016) 3 4
  4. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 40
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4

Products for NDUFA12 Gene

Sources for NDUFA12 Gene