NDUFA10 Gene (Protein Coding)

NADH:Ubiquinone Oxidoreductase Subunit A10

GC02M239893
GIFtS:
45
The protein encoded by this gene is a component of 42 kDa complex I, the first enzyme complex in the electron transport chain of mitochondria. This protein has NADH dehydrogenase activity and oxidoreductase activity. It transfers electrons from NADH to the respiratory chain. A mutation in this gene was found in an individual with Leigh syndrome. [provided by RefSeq, Apr 2016] See more...

Aliases for NDUFA10 Gene

Aliases for NDUFA10 Gene

  • NADH:Ubiquinone Oxidoreductase Subunit A10 2 3 5
  • NADH Dehydrogenase [Ubiquinone] 1 Alpha Subcomplex Subunit 10, Mitochondrial 3 4
  • NADH-Ubiquinone Oxidoreductase 42 KDa Subunit 3 4
  • Complex I 42kDa Subunit 2 3
  • CI-42k 2 3
  • NADH Dehydrogenase (Ubiquinone) 1 Alpha Subcomplex, 10 (42kD) 2
  • NADH Dehydrogenase (Ubiquinone) 1 Alpha Subcomplex, 10, 42kDa 2
  • Complex I-42kD 4
  • CI-42KD 3
  • MC1DN22 3
  • NDUFA10 5
  • CI-42kD 4

External Ids for NDUFA10 Gene

Previous GeneCards Identifiers for NDUFA10 Gene

  • GC02P240548
  • GC02P241389
  • GC02M240854
  • GC02M241220
  • GC02M240620
  • GC02M240548
  • GC02M232656

Summaries for NDUFA10 Gene

Entrez Gene Summary for NDUFA10 Gene

  • The protein encoded by this gene is a component of 42 kDa complex I, the first enzyme complex in the electron transport chain of mitochondria. This protein has NADH dehydrogenase activity and oxidoreductase activity. It transfers electrons from NADH to the respiratory chain. A mutation in this gene was found in an individual with Leigh syndrome. [provided by RefSeq, Apr 2016]

GeneCards Summary for NDUFA10 Gene

NDUFA10 (NADH:Ubiquinone Oxidoreductase Subunit A10) is a Protein Coding gene. Diseases associated with NDUFA10 include Mitochondrial Complex I Deficiency, Nuclear Type 22 and Leigh Syndrome With Leukodystrophy. Among its related pathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. and Pathways of neurodegeneration - multiple diseases. Gene Ontology (GO) annotations related to this gene include NADH dehydrogenase (ubiquinone) activity and nucleoside kinase activity. An important paralog of this gene is DCK.

UniProtKB/Swiss-Prot Summary for NDUFA10 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 NDUFA10 Gene

Additional gene information for NDUFA10 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for NDUFA10 Gene

Genomics for NDUFA10 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for NDUFA10 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
GH02J240023 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 283.5 +0.5 482 3.1 CHD2 TBP SP1 MXD4 SIX5 NR2C1 MNT BRCA1 SMAD5 ETS1 NDUFA10 lnc-GPC1-4 SNED1 GPR35 piR-30959 LOC401040
GH02J240818 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE CraniofacialAtlas 250 -794.3 -794258 3.2 ZBTB10 ZIC2 SIN3A ZNF341 KLF9 YY1 SP2 ZFP37 ZBTB48 TAF1 HSALNG0023618 HSALNG0023619 NDUFA10 MAB21L4 AGXT MTERF4 KIF1A AQP12A
GH02J240027 Enhancer 0.2 Ensembl 272.2 -1.6 -1558 0.6 NDUFA10 lnc-GPC1-4 OR6B2
GH02J239926 Enhancer 1.3 FANTOM5 ENCODE dbSUPER 25.1 +98.1 98111 2 TBP ZNF217 BHLHE40 ELF1 ZIC2 CEBPB MAX TAF9B CTBP1 JUND NDUFA10 OR6B3 HSALNG0023542 HSALNG0023541 LOC401040
GH02J239952 Enhancer 0.8 Ensembl ENCODE dbSUPER 40.8 +71.9 71934 2.5 ZIC2 EGR2 MNT ZFHX2 NDUFA10 HSALNG0023544 lnc-OR6B2-2 LOC401040
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around NDUFA10 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for NDUFA10

Top Transcription factor binding sites by QIAGEN in the NDUFA10 gene promoter:
  • AP-2alpha
  • AP-2alpha isoform 2
  • AP-2alpha isoform 3
  • AP-2alpha isoform 4
  • AP-2alphaA
  • E4BP4
  • ER-alpha
  • GATA-2
  • HOXA5
  • RORalpha2

Genomic Locations for NDUFA10 Gene

Latest Assembly
chr2:239,892,442-240,025,743
(GRCh38/hg38)
Size:
133,302 bases
Orientation:
Minus strand

Previous Assembly
chr2:240,831,859-240,964,759
(GRCh37/hg19 by Entrez Gene)
Size:
132,901 bases
Orientation:
Minus strand

chr2:240,831,867-240,964,819
(GRCh37/hg19 by Ensembl)
Size:
132,953 bases
Orientation:
Minus strand

Genomic View for NDUFA10 Gene

Genes around NDUFA10 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NDUFA10 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NDUFA10 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for NDUFA10 Gene

Proteins for NDUFA10 Gene

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  • Protein details for NDUFA10 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O95299-NDUAA_HUMAN
    Recommended name:
    NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 10, mitochondrial
    Protein Accession:
    O95299
    Secondary Accessions:
    • Q8WXC9

    Protein attributes for NDUFA10 Gene

    Size:
    355 amino acids
    Molecular mass:
    40751 Da
    Cofactor:
    Name=FAD; Xref=ChEBI:CHEBI:57692;
    Quaternary structure:
    • Complex I is composed of 45 different subunits. This a component of the hydrophobic protein fraction.

    Three dimensional structures from OCA and Proteopedia for NDUFA10 Gene

    Alternative splice isoforms for NDUFA10 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for NDUFA10 Gene

Protein Expression for NDUFA10 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for NDUFA10 Gene

  • Phosphorylation at Ser-250 by PINK1 is required for the binding and/or reduction of the complex I substrate ubiquinone.
  • Ubiquitination at Lys48, Lys102, Lys243, Lys277, Lys280, Lys285, Lys338, and Lys350
  • Modification sites at PhosphoSitePlus

Other Protein References for NDUFA10 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for NDUFA10 Gene

Domains & Families for NDUFA10 Gene

Gene Families for NDUFA10 Gene

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

Protein Domains for NDUFA10 Gene

InterPro:
Blocks:
  • Deoxynucleoside kinase
ProtoNet:

Suggested Antigen Peptide Sequences for NDUFA10 Gene

GenScript: Design optimal peptide antigens:
  • NADH-ubiquinone oxidoreductase 42 kDa subunit (NDUAA_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O95299

UniProtKB/Swiss-Prot:

NDUAA_HUMAN :
  • Belongs to the complex I NDUFA10 subunit family.
Family:
  • Belongs to the complex I NDUFA10 subunit family.
genes like me logo Genes that share domains with NDUFA10: view

Function for NDUFA10 Gene

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  6. Cell Lines for research

Molecular function for NDUFA10 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.
GENATLAS Biochemistry:
NADH ubiquinone oxidoreductase 10 (Q reductase),42kDa,component alpha 10,hydrophobic fraction of the complex I,multisubunit enzyme of oxidative phosphorylation (OXPHOS),inner mitochondrial membrane

Phenotypes From GWAS Catalog for NDUFA10 Gene

Gene Ontology (GO) - Molecular Function for NDUFA10 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0008137 NADH dehydrogenase (ubiquinone) activity IEA,NAS 9878551
genes like me logo Genes that share ontologies with NDUFA10: view
genes like me logo Genes that share phenotypes with NDUFA10: view

Human Phenotype Ontology for NDUFA10 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for NDUFA10 Gene

MGI Knock Outs for NDUFA10:
  • Ndufa10 Ndufa10<tm1e.1(EUCOMM)Hmgu>

Animal Models for research

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NDUFA10

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for NDUFA10 Gene

Localization for NDUFA10 Gene

Subcellular locations from UniProtKB/Swiss-Prot for NDUFA10 Gene

Mitochondrion matrix.

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 NDUFA10 gene
Compartment Confidence
mitochondrion 5
cytosol 2
plasma membrane 1
extracellular 1
cytoskeleton 1
peroxisome 1
nucleus 1
endoplasmic reticulum 1
lysosome 1

Subcellular locations from the

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

Gene Ontology (GO) - Cellular Components for NDUFA10 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IBA 21873635
GO:0005739 mitochondrion IDA --
GO:0005743 mitochondrial inner membrane TAS --
GO:0005747 mitochondrial respiratory chain complex I IEA,NAS 9878551
GO:0005759 mitochondrial matrix IEA --
genes like me logo Genes that share ontologies with NDUFA10: view

Pathways & Interactions for NDUFA10 Gene

genes like me logo Genes that share pathways with NDUFA10: view

Gene Ontology (GO) - Biological Process for NDUFA10 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006120 mitochondrial electron transport, NADH to ubiquinone IEA,TAS --
GO:0032981 mitochondrial respiratory chain complex I assembly TAS --
GO:0055114 oxidation-reduction process IEA --
genes like me logo Genes that share ontologies with NDUFA10: view

No data available for SIGNOR curated interactions for NDUFA10 Gene

Drugs & Compounds for NDUFA10 Gene

Products:

  1. Drug products for research

(6) Drugs for NDUFA10 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 NDUFA10 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 NDUFA10: view

Transcripts for NDUFA10 Gene

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mRNA/cDNA for NDUFA10 Gene

3 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
46 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 NDUFA10

Alternative Splicing Database (ASD) splice patterns (SP) for NDUFA10 Gene

ExUns: 1a · 1b · 1c · 1d · 1e · 1f ^ 2 ^ 3 ^ 4a · 4b · 4c ^ 5 ^ 6a · 6b · 6c · 6d ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12
SP1: - - -
SP2: - - - - -
SP3: - - - -
SP4: - - - - - - - -
SP5: - - -
SP6: - - - -
SP7: - - - -
SP8:
SP9: -

Relevant External Links for NDUFA10 Gene

GeneLoc Exon Structure for
NDUFA10

Expression for NDUFA10 Gene

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  1. Primer products for research
  2. Gene Expression Assays for research

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for NDUFA10 Gene

mRNA expression in normal human tissues for NDUFA10 Gene
mRNA expression by BioGPS for NDUFA10 GenemRNA expression by GTEx for NDUFA10 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for NDUFA10 Gene

This gene is overexpressed in Heart (15.7) and Brain (6.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for NDUFA10 Gene



Protein tissue co-expression partners for NDUFA10 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for NDUFA10

SOURCE GeneReport for Unigene cluster for NDUFA10 Gene:

Hs.277677

Evidence on tissue expression from TISSUES for NDUFA10 Gene

  • Nervous system(4.7)
  • Liver(4.5)
  • Heart(3.1)
  • Muscle(2.9)
  • Skin(2.9)
  • Lung(2.7)
  • Kidney(2.5)
  • Thyroid gland(2.1)
  • Intestine(2.1)
  • Eye(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for NDUFA10 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 NDUFA10: view

Primer products for research

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for NDUFA10 Gene

Orthologs for NDUFA10 Gene

This gene was present in the common ancestor of animals.

Orthologs for NDUFA10 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia NDUFA10 30 31
  • 99.15 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia LOC608244 30
  • 82.98 (n)
NDUFA10 31
  • 79 (a)
 OneToOne
Cow
(Bos Taurus)
 Mammalia NDUFA10 30 31
  • 82.12 (n)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Ndufa10 30 17 31
  • 79.06 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Ndufa10 30
  • 77.84 (n)
Platypus
(Ornithorhynchus anatinus)
 Mammalia NDUFA10 31
  • 68 (a)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia NDUFA10 31
  • 58 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves NDUFA10 30 31
  • 65.21 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia NDUFA10 31
  • 59 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia ndufa10 30
  • 62.2 (n)
Str.5172 30
African clawed frog
(Xenopus laevis)
 Amphibia Xl.25913 30
Zebrafish
(Danio rerio)
 Actinopterygii ndufa10 30 31
  • 61.5 (n)
 OneToOne
-- 30
Fruit Fly
(Drosophila melanogaster)
 Insecta ND42 30 31 32
  • 48.35 (n)
 OneToOne
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP011130 30
  • 47.21 (n)
Worm
(Caenorhabditis elegans)
 Secernentea nuo-4 30 31
  • 43.92 (n)
 OneToOne
Sea Squirt
(Ciona savignyi)
 Ascidiacea CSA.645 31
  • 23 (a)
 OneToOne
Species where no ortholog for NDUFA10 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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)
  • Rainbow Trout (Oncorhynchus mykiss)
  • 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 NDUFA10 Gene

ENSEMBL:
Gene Tree for NDUFA10 (if available)
TreeFam:
Gene Tree for NDUFA10 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for NDUFA10: view image

Paralogs for NDUFA10 Gene

Paralogs for NDUFA10 Gene

genes like me logo Genes that share paralogs with NDUFA10: view

Variants for NDUFA10 Gene

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Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for NDUFA10 Gene

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
895289 Uncertain Significance: Leigh syndrome; Mitochondrial complex I deficiency, nuclear type 1 239,957,715(-) T/C
NM_004544.4(NDUFA10):c.*3403A>G 		NON_CODING_TRANSCRIPT_VARIANT,THREE_PRIME_UTR
895290 Uncertain Significance: Leigh syndrome; Mitochondrial complex I deficiency, nuclear type 1 239,957,771(-) G/A
NM_004544.4(NDUFA10):c.*3347C>T 		NON_CODING_TRANSCRIPT_VARIANT,THREE_PRIME_UTR
895291 Uncertain Significance: Leigh syndrome; Mitochondrial complex I deficiency, nuclear type 1 239,957,817(-) G/A
NM_004544.4(NDUFA10):c.*3301C>T 		NON_CODING_TRANSCRIPT_VARIANT,THREE_PRIME_UTR
895371 Uncertain Significance: Leigh syndrome; Mitochondrial complex I deficiency, nuclear type 1 239,958,218(-) C/T
NM_004544.4(NDUFA10):c.*2900G>A 		NON_CODING_TRANSCRIPT_VARIANT,THREE_PRIME_UTR
895372 Uncertain Significance: Leigh syndrome; Mitochondrial complex I deficiency, nuclear type 1 239,958,280(-) G/T
NM_004544.4(NDUFA10):c.*2838C>A 		NON_CODING_TRANSCRIPT_VARIANT,THREE_PRIME_UTR

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for NDUFA10 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 NDUFA10 Gene

Variant ID Type Subtype PubMed ID
dgv2190n106 CNV deletion 24896259
esv2166282 CNV deletion 18987734
esv2423154 CNV deletion 19546169
esv2721886 CNV deletion 23290073
esv2721887 CNV deletion 23290073
esv3561280 CNV deletion 23714750
esv3594789 CNV loss 21293372
esv7678 CNV loss 19470904
nsv1014414 CNV loss 25217958
nsv1072089 CNV deletion 25765185
nsv1148694 CNV deletion 26484159
nsv213273 CNV deletion 16902084
nsv214120 CNV deletion 16902084
nsv215214 CNV deletion 16902084
nsv3235 CNV insertion 18451855
nsv482061 CNV gain 20164927
nsv525278 CNV gain 19592680
nsv834584 CNV gain 17160897
nsv997288 CNV gain 25217958

Variation tolerance for NDUFA10 Gene

Residual Variation Intolerance Score: 53.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.33; 76.70% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for NDUFA10 Gene

Human Gene Mutation Database (HGMD)
NDUFA10
SNPedia medical, phenotypic, and genealogical associations of SNPs for
NDUFA10

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NDUFA10 Gene

Disorders for NDUFA10 Gene

MalaCards: The human disease database

(4) MalaCards diseases for NDUFA10 Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

Disorder Aliases PubMed IDs
mitochondrial complex i deficiency, nuclear type 22
  • mc1dn22
leigh syndrome with leukodystrophy
  • infantile subacute necrotizing encephalopathy with leukodystrophy
leigh syndrome
  • ls
mitochondrial complex i deficiency, nuclear type 1
  • mc1dn1
- elite association - COSMIC cancer census association via MalaCards

UniProtKB/Swiss-Prot

NDUAA_HUMAN
  • Mitochondrial complex I deficiency, nuclear type 22 (MC1DN22) [MIM:618243]: 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. MC1DN22 transmission pattern is consistent with autosomal recessive inheritance. {ECO:0000269 PubMed:21150889, ECO:0000269 PubMed:26741492}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for NDUFA10

Genetic Association Database
(GAD)
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 NDUFA10: view

No data available for Genatlas for NDUFA10 Gene

Publications for NDUFA10 Gene

  1. NDUFA10 mutations cause complex I deficiency in a patient with Leigh disease. (PMID: 21150889) Hoefs SJ … van den Heuvel LP (European journal of human genetics : EJHG 2011) 3 4 74
  2. cDNA of eight nuclear encoded subunits of NADH:ubiquinone oxidoreductase: human complex I cDNA characterization completed. (PMID: 9878551) Loeffen JL … Smeitink JA (Biochemical and biophysical research communications 1998) 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 41
  5. Association study between single-nucleotide polymorphisms in 199 drug-related genes and commonly measured quantitative traits of 752 healthy Japanese subjects. (PMID: 19343046) Saito A … Kamatani N (Journal of human genetics 2009) 3 41

ExternalLinks

View latest publications for NDUFA10 gene in Mastermind

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