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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
External Ids for NDUFA10 Gene
- HGNC: 7684
- Entrez Gene: 4705
- Ensembl: ENSG00000130414
- OMIM: 603835
- UniProtKB: O95299
Previous GeneCards Identifiers for NDUFA10 Gene
- GC02P240548
- GC02P241389
- GC02M240854
- GC02M241220
- GC02M240620
- GC02M240548
- GC02M232656
Summaries 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 GABAergic synapse. Gene Ontology (GO) annotations related to this gene include NADH dehydrogenase (ubiquinone) activity and nucleoside kinase activity. An important paralog of this gene is DGUOK.
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.
Additional gene information for NDUFA10 Gene
- Monarch Initiative
- Search for NDUFA10 at DataMed
- Search for NDUFA10 at HumanCyc
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 for NDUFA10 Gene
Promoters and enhancers for NDUFA10 Gene
- 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 UCSC Golden Path with GeneCards custom track
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
Genomic Locations for NDUFA10 Gene
- chr2:239,892,450-240,025,402
- (GRCh38/hg38)
- Size:
- 132,953 bases
- Orientation:
- Minus strand
- chr2:240,831,867-240,964,819
- (GRCh37/hg19)
- 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:
-
- 2q37.3 by HGNC
- 2q37.3 by Entrez Gene
- 2q37.3 by Ensembl
NDUFA10 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for NDUFA10 Gene
Proteins for NDUFA10 Gene
-
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
- 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
Protein Expression for NDUFA10 Gene
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
- NX_O95299 (NX_O95299-1)
- Modification sites at PhosphoSitePlus
Other Protein References for NDUFA10 Gene
Antibody Products
- G Biosciences Immunotag™ NDUFA10 Antibody
- Creative Diagnostics Anti-NDUFA10 Monoclonal antibody, clone 4C0-2B2
- Creative Biolabs Chicken Anti-NDUFA10 (ab1) Polyclonal IgY
-
Custom Antibody ServicesOriGene Antibodies for NDUFA10
- Novus Biologicals Antibodies for NDUFA10
-
Abcam antibodies for NDUFA10
- Invitrogen Antibodies for NDUFA10 (AFLGC-NDUFA10)
-
Santa Cruz Biotechnology (SCBT) Antibodies for NDUFA10
Protein Products
- Creative Biomart Recombinant Human NDUFA10, T7-tagged
-
OriGene Purified Proteins for NDUFA10
- Search Origene for MassSpec and Protein Over-expression Lysates for NDUFA10
- Origene Custom Protein Services for NDUFA10
- antibodies-online: Show 8 available NDUFA10 Proteins ranked by validation data
- Compare Top NDUFA10 Proteins
-
Quality Products:
Assay Products
- antibodies-online: Show 8 available NDUFA10 Elisa Kits ranked by validation data
- Compare Top NDUFA10 Elisa Kits
-
Quality Products:
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
- Blocks:
-
- Deoxynucleoside kinase
- InterPro:
- 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- Family:
-
- Belongs to the complex I NDUFA10 subunit family.
Function for NDUFA10 Gene
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
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0008137 | NADH dehydrogenase (ubiquinone) activity | NAS | 9878551 |
Phenotypes for NDUFA10 Gene
- GenomeRNAi human phenotypes for NDUFA10:
-
- Decreased viability ratio
- Decreased HIV-LTR-beta-galactosidase protein expression
- Increased shRNA abundance (Z-score > 2)
- Increased cell death HMECs cells
- Reduced mammosphere formation
- Decreased shRNA abundance (Z-score < -2)
- Decreased viability
- no effect
- Increased human cytomegalovirus (HCMV) strain AD169 replication
- Increased vaccinia virus (VACV) infection
- shRNA abundance <= 50%
- Increased viability
- Decreased shRNA abundance
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for NDUFA10 - Select products 50% OFF >
- * NDUFA10 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * NDUFA10 CRISPR applications: KO, Activation, Repression, and more - Browse All
-
OriGene CRISPR knockouts for NDUFA10
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for NDUFA10
- genomics-online: gRNA clones - Search for available NDUFA10 gRNA products
- Overview of 151 available NDUFA10 gene related products
-
Santa Cruz Biotechnology (SCBT) CRISPR for NDUFA10
miRNA for NDUFA10 Gene
- miRTarBase miRNAs that target NDUFA10
-
- hsa-mir-615-3p (MIRT039891)
- hsa-let-7b-5p (MIRT051977)
- hsa-mir-6852-3p (MIRT612123)
- hsa-mir-3909 (MIRT612124)
- hsa-mir-767-5p (MIRT612125)
- hsa-mir-4468 (MIRT612126)
- hsa-mir-4793-3p (MIRT612127)
- hsa-mir-3130-3p (MIRT612128)
- hsa-mir-383-3p (MIRT612129)
- hsa-mir-6501-3p (MIRT612130)
- hsa-mir-1226-3p (MIRT612131)
- hsa-mir-634 (MIRT612132)
- hsa-mir-6780a-3p (MIRT614588)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for NDUFA10
- Browse OriGene Inhibitory RNA Products For NDUFA10
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NDUFA10
- genomics-online: shRNA clones - Search for available NDUFA10 shRNA products
- Overview of 151 available NDUFA10 gene related products
Clone Products
- Applied Biological Materials (abm): Clones for NDUFA10 - Select products 50% OFF >
- * NDUFA10 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * NDUFA10 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All
- Sino Biological Human cDNA Clone for NDUFA10
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for NDUFA10
Cell Line Products
-
Horizon Cell Lines for NDUFA10
No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for NDUFA10 Gene
Localization for NDUFA10 Gene
Subcellular locations from UniProtKB/Swiss-Prot for NDUFA10 Gene
- Mitochondrion matrix.
| Compartment | Confidence |
|---|---|
| mitochondrion | 5 |
| cytosol | 2 |
| plasma membrane | 1 |
| extracellular | 1 |
| cytoskeleton | 1 |
| peroxisome | 1 |
| nucleus | 1 |
| endoplasmic reticulum | 1 |
| lysosome | 1 |
- Mitochondria (3)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005737 | cytoplasm | IBA | 21873635 |
| GO:0005739 | mitochondrion | IDA,IEA | -- |
| GO:0005743 | mitochondrial inner membrane | TAS | -- |
| GO:0005747 | mitochondrial respiratory chain complex I | NAS,IEA | 9878551 |
| GO:0005759 | mitochondrial matrix | IEA | -- |
Pathways & Interactions for NDUFA10 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. |
.40
|
|
| 2 | Metabolism |
.40
|
|
| 3 | GABAergic synapse | ||
Pathways by source for NDUFA10 Gene
2 BioSystems pathways for NDUFA10 Gene
8 KEGG pathways for NDUFA10 Gene
Interacting Proteins for NDUFA10 Gene
GPS-Prot Interaction Network for NDUFA10
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006120 | mitochondrial electron transport, NADH to ubiquinone | TAS,IEA | -- |
| GO:0032981 | mitochondrial respiratory chain complex I assembly | TAS | -- |
| GO:0055114 | oxidation-reduction process | IEA | -- |
No data available for SIGNOR curated interactions for NDUFA10 Gene
Drugs & Compounds for NDUFA10 Gene
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| QH2 |
|
56275-39-9 |
|
|||
| Sulfide |
|
18496-25-8 |
|
Drug Products
- Creative Biomart Recombinant Human NDUFA10, T7-tagged
Transcripts for NDUFA10 Gene
mRNA/cDNA for NDUFA10 Gene
- 3 REFSEQ mRNAs :
- 11 NCBI additional mRNA sequence :
- 14 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000252711 4855 bps (ENST00000252711.7)
- ENST00000307300 1313 bps (ENST00000307300.8)
- ENST00000404554 1557 bps (ENST00000404554.5)
- ENST00000407129 699 bps (ENST00000407129.3)
- ENST00000414580 562 bps (ENST00000414580.1)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for NDUFA10 - Select products 50% OFF >
- * NDUFA10 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * NDUFA10 CRISPR applications: KO, Activation, Repression, and more - Browse All
-
OriGene CRISPR knockouts for NDUFA10
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for NDUFA10
- genomics-online: gRNA clones - Search for available NDUFA10 gRNA products
- Overview of 151 available NDUFA10 gene related products
-
Santa Cruz Biotechnology (SCBT) CRISPR for NDUFA10
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for NDUFA10
- Browse OriGene Inhibitory RNA Products For NDUFA10
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NDUFA10
- genomics-online: shRNA clones - Search for available NDUFA10 shRNA products
- Overview of 151 available NDUFA10 gene related products
Clone Products
- Applied Biological Materials (abm): Clones for NDUFA10 - Select products 50% OFF >
- * NDUFA10 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * NDUFA10 tags and reporters available: His, HA, Myc, Flag, GFP, RFP, Luciferase - Browse All
- Sino Biological Human cDNA Clone for NDUFA10
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for NDUFA10
| 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
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
- Brain (Nervous System)
- Neural Tube (Nervous System)
- Bone (Muscoskeletal System)
- Thymus (Hematopoietic System)
- Adipose (Muscoskeletal System)
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
- Elite partner
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for NDUFA10
SOURCE GeneReport for Unigene cluster for NDUFA10 Gene:
Hs.277677Evidence on tissue expression from TISSUES for NDUFA10 Gene
- Nervous system(4.6)
- Liver(4.3)
- Heart(2.7)
- Lung(2.7)
- Muscle(2.6)
- Skin(2.2)
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
Primer Products
-
OriGene qPCR primer pairs for NDUFA10
-
OriGene qPCR primer pairs and template standards for NDUFA10
- genomics-online: primer clones - Search for available NDUFA10 Primer products
- Overview of 151 available NDUFA10 gene related products
Gene Expression Assay Products
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | NDUFA10 31 30 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | LOC608244 30 |
|
||
| NDUFA10 31 |
|
OneToOne | |||
| cow (Bos Taurus) |
Mammalia | NDUFA10 31 30 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Ndufa10 17 31 30 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Ndufa10 30 |
|
||
| platypus (Ornithorhynchus anatinus) |
Mammalia | NDUFA10 31 |
|
OneToOne | |
| oppossum (Monodelphis domestica) |
Mammalia | NDUFA10 31 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | NDUFA10 31 30 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | NDUFA10 31 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | ndufa10 30 |
|
||
| Str.5172 30 |
|
||||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.25913 30 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | ndufa10 31 30 |
|
OneToOne | |
| -- 30 |
|
||||
| fruit fly (Drosophila melanogaster) |
Insecta | ND42 31 32 30 |
|
OneToOne | |
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP011130 30 |
|
||
| worm (Caenorhabditis elegans) |
Secernentea | nuo-4 31 30 |
|
OneToOne | |
| sea squirt (Ciona savignyi) |
Ascidiacea | CSA.645 31 |
|
OneToOne |
- Species where no ortholog for NDUFA10 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya 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 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
Variants for NDUFA10 Gene
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 |
|---|---|---|---|---|---|
| 668486 | Likely Benign: not provided | 240,022,349(-) | C/T | INTRON_VARIANT | |
| 669506 | Benign: not provided | 240,024,976(-) | CCT/C | INTRON_VARIANT | |
| 669507 | Benign: not provided | 240,015,176(-) | C/T | INTRON_VARIANT | |
| 669508 | Benign: not provided | 239,989,891(-) | C/T | INTRON_VARIANT | |
| 669868 | Benign: not provided | 240,018,384(-) | G/A | INTRON_VARIANT |
| 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 |
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
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NDUFA10 Gene
Disorders for NDUFA10 Gene
(6) MalaCards diseases for NDUFA10 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| mitochondrial complex i deficiency, nuclear type 22 |
|
|
| leigh syndrome with leukodystrophy |
|
|
| leigh syndrome |
|
|
| mitochondrial disorders |
|
|
| mitochondrial complex i deficiency, nuclear type 1 |
|
|
Search NDUFA10 in MalaCards
View complete list of genes associated with diseases
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 mutations affecting the gene represented in this entry.
Additional Disease Information for NDUFA10
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for Genatlas for NDUFA10 Gene
Publications for NDUFA10 Gene
- 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 54
- Accessory subunits are integral for assembly and function of human mitochondrial complex I. (PMID: 27626371) Stroud DA … Ryan MT (Nature 2016) 3 4 54
- 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 54
- Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 41 54
- 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 54
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Products for NDUFA10 Gene
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Sources for NDUFA10 Gene
- (1) GeneCards
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- (4) UniProtKB/Swiss-Prot
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