Aliases for NDUFAF6 Gene
Aliases for NDUFAF6 Gene
External Ids for NDUFAF6 Gene
- HGNC: 28625
- Entrez Gene: 137682
- Ensembl: ENSG00000156170
- OMIM: 612392
- UniProtKB: Q330K2
Previous HGNC Symbols for NDUFAF6 Gene
- C8orf38
Previous GeneCards Identifiers for NDUFAF6 Gene
- GC08P096037
- GC08P095910
Summaries for NDUFAF6 Gene
-
This gene encodes a protein that localizes to mitochondria and contains a predicted phytoene synthase domain. The encoded protein plays an important role in the assembly of complex I (NADH-ubiquinone oxidoreductase) of the mitochondrial respiratory chain through regulation of subunit ND1 biogenesis. Mutations in this gene are associated with complex I enzymatic deficiency. [provided by RefSeq, Nov 2011]
GeneCards Summary for NDUFAF6 Gene
NDUFAF6 (NADH:Ubiquinone Oxidoreductase Complex Assembly Factor 6) is a Protein Coding gene. Diseases associated with NDUFAF6 include Leigh Syndrome and Leigh Syndrome With Leukodystrophy. Among its related pathways are Metabolism and Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. Gene Ontology (GO) annotations related to this gene include transferase activity.
UniProtKB/Swiss-Prot for NDUFAF6 Gene
-
Involved in the assembly of mitochondrial NADH:ubiquinone oxidoreductase complex (complex I) at early stages. May play a role in the biogenesis of MT-ND1.
Additional gene information for NDUFAF6 Gene
- Monarch Initiative
- Search for NDUFAF6 at DataMed
- Search for NDUFAF6 at HumanCyc
No data available for CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NDUFAF6 Gene
Genomics for NDUFAF6 Gene
GeneHancer (GH) Regulatory Elements for NDUFAF6 Gene
Promoters and enhancers for NDUFAF6 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 NDUFAF6 on UCSC Golden Path with GeneCards custom track
Regulatory Element Products
Genomic Locations for NDUFAF6 Gene
Genomic Locations for NDUFAF6 Gene
- chr8:94,895,451-95,116,455
- (GRCh38/hg38)
- Size:
- 221,005 bases
- Orientation:
- Plus strand
- chr8:95,907,995-96,128,683
- (GRCh37/hg19)
- Size:
- 220,689 bases
- Orientation:
- Plus strand
Genomic View for NDUFAF6 Gene
Genes around NDUFAF6 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 8q22.1 by Entrez Gene
- 8q22.1 by HGNC
- 8q22.1 by Ensembl
NDUFAF6 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 NDUFAF6 Gene
Proteins for NDUFAF6 Gene
-
Protein details for NDUFAF6 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q330K2-NDUF6_HUMAN
- Recommended name:
- NADH dehydrogenase (ubiquinone) complex I, assembly factor 6
- Protein Accession:
- Q330K2
- A8MT28
- A8MWF0
- B4DQ45
- Q8N6U6
Protein attributes for NDUFAF6 Gene
- Size:
- 333 amino acids
- Molecular mass:
- 38176 Da
- Quaternary structure:
- No Data Available
- SequenceCaution:
-
- Sequence=BAG60807.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=EAW91734.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};
Protein Expression for NDUFAF6 Gene
Post-translational modifications for NDUFAF6 Gene
Other Protein References for NDUFAF6 Gene
- ENSEMBL proteins:
- REFSEQ proteins:
-
- XP_011515135.1
- XP_011515140.1
- XP_011515143.1
- XP_016868522.1
- XP_016868517.1
- XP_011515139.1
- NP_001341459.1
- XP_016868518.1
- NP_001341444.1
- NP_001341454.1
- NP_001341461.1
- NP_001341451.1
- NP_001341462.1
- NP_001317511.1
- XP_011515136.1
- XP_011515141.1
- XP_016868516.1
- NP_001341448.1
- NP_001341458.1
- XP_005250849.1
- NP_689629.2
- NP_001341447.1
- NP_001341457.1
- NP_001341460.1
- NP_001341450.1
- XP_011515144.1
- XP_011515137.1
- XP_024302830.1
- XP_016868523.1
- XP_011515142.1
- XP_011515138.1
- NP_001341445.1
- NP_001341446.1
- NP_001341456.1
- NP_001341463.1
- NP_001341443.1
- NP_001341453.1
- XP_005250850.1
Antibody Products
- Novus Biologicals Antibodies for NDUFAF6
- Invitrogen Antibodies for NDUFAF6
- Search GeneTex for Antibodies for NDUFAF6
Protein Products
-
OriGene Purified Proteins for NDUFAF6
- Search Origene for MassSpec and Protein Over-expression Lysates for NDUFAF6
- Origene Custom Protein Services for NDUFAF6
- Novus Biologicals proteins for NDUFAF6
- antibodies-online: Search results for 3 available NDUFAF6 Proteins ranked by validation data
- Compare Top NDUFAF6 Proteins
-
Quality Products:
- Search GeneTex for Proteins for NDUFAF6
Assay Products
No data available for DME Specific Peptides for NDUFAF6 Gene
Domains & Families for NDUFAF6 Gene
Gene Families for NDUFAF6 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Disease related genes
- Predicted intracellular proteins
Protein Domains for NDUFAF6 Gene
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for NDUFAF6 Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q330K2- Family:
-
- Belongs to the NDUFAF6 family.
Function for NDUFAF6 Gene
Molecular function for NDUFAF6 Gene
- UniProtKB/Swiss-Prot Function:
- Involved in the assembly of mitochondrial NADH:ubiquinone oxidoreductase complex (complex I) at early stages. May play a role in the biogenesis of MT-ND1.
Phenotypes From GWAS Catalog for NDUFAF6 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0016740 | transferase activity | IEA | -- |
Phenotypes for NDUFAF6 Gene
- MGI mutant phenotypes for NDUFAF6:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for NDUFAF6:
Animal Models for NDUFAF6 Gene
- MGI Knock Outs for NDUFAF6:
-
- Ndufaf6 Ndufaf6<tm1a(EUCOMM)Wtsi>
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for NDUFAF6
-
CRISPR Products
-
OriGene CRISPR knockouts for NDUFAF6
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for NDUFAF6
- genomics-online: gRNA clones - Search results for 47 available NDUFAF6 gene related products
- Overview of 47 available NDUFAF6 gene related products
- Applied Biological Materials CRISPR for NDUFAF6
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for NDUFAF6
- GenScript: Design CRISPR guide RNA sequences for NDUFAF6
miRNA for NDUFAF6 Gene
- miRTarBase miRNAs that target NDUFAF6
-
- hsa-mir-3679-3p (MIRT644354)
- hsa-mir-6807-5p (MIRT644355)
- hsa-mir-6868-3p (MIRT644356)
- hsa-mir-6826-3p (MIRT644357)
- hsa-mir-2355-5p (MIRT644358)
- hsa-mir-1233-3p (MIRT644359)
- hsa-mir-1225-3p (MIRT644360)
- hsa-mir-3124-3p (MIRT644361)
- hsa-mir-3667-3p (MIRT644362)
- hsa-mir-6734-3p (MIRT644363)
- hsa-mir-6756-3p (MIRT644364)
- hsa-mir-3127-3p (MIRT644365)
- hsa-mir-129-2-3p (MIRT644366)
- hsa-mir-129-1-3p (MIRT644367)
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for NDUFAF6
- Browse OriGene Inhibitory RNA Products For NDUFAF6
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NDUFAF6
- genomics-online: shRNA clones - Search results for 47 available NDUFAF6 gene related products
- Overview of 47 available NDUFAF6 gene related products
Clone Products
-
GenScript: Next-day shipping of latest version cDNA ORF clones for NDUFAF6 in any vector
- NM_152416.3
- XM_011516834.2
- XM_011516835.2
- XM_011516838.2
- XM_011516842.2
- XM_005250790.2
- XM_011516841.2
- XM_005250793.2
- XM_011516833.2
- XM_011516839.2
- XM_011516837.2
- XM_005250791.2
- XM_011516836.2
- XM_011516840.2
- XM_005250792.2
- XM_017013027.1
- NM_001330582.1
- NM_001354524.1
- NM_001354528.1
- NM_001354534.1
- NM_001354518.1
- XM_017013032.1
- XM_017013038.1
- NM_001354521.1
- NM_001354521.1
- NM_001354517.1
- NM_001354527.1
- XM_017013028.1
- XM_017013039.1
- NM_001354531.1
- NM_001354532.1
- NM_001354522.1
- NM_001354525.1
- NM_001354529.1
- XM_017013030.1
- XM_017013035.1
- NM_001354516.1
- XM_017013037.1
- XM_017013029.1
- XM_017013034.1
- NM_001354533.1
- NM_001354515.1
- NM_001354514.1
- NM_001354519.1
- XM_017013031.1
- XM_017013036.1
- XM_017013033.1
- Sino Biological Human cDNA Clone for NDUFAF6
- VectorBuilder custom plasmid, inducible vectors for NDUFAF6
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for NDUFAF6
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for NDUFAF6
- Applied Biological Materials Clones for NDUFAF6
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for NDUFAF6
No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for NDUFAF6 Gene
Localization for NDUFAF6 Gene
Subcellular locations from UniProtKB/Swiss-Prot for NDUFAF6 Gene
- Isoform 1: Mitochondrion inner membrane. Note=Peripherally localized on the matrix face of the mitochondrial inner membrane.
- Isoform 2: Cytoplasm. Nucleus.
| Compartment | Confidence |
|---|---|
| mitochondrion | 5 |
| nucleus | 5 |
| plasma membrane | 2 |
| cytoskeleton | 2 |
| cytosol | 2 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005634 | nucleus | IEA | -- |
| GO:0005737 | cytoplasm | IEA | -- |
| GO:0005739 | mitochondrion | IEA,IBA | -- |
| GO:0005743 | mitochondrial inner membrane | TAS | -- |
| GO:0016020 | membrane | IEA | -- |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for NDUFAF6 Gene
Pathways & Interactions for NDUFAF6 Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. |
.40
|
|
| 2 | Metabolism |
.37
|
|
Pathways by source for NDUFAF6 Gene
1 KEGG pathway for NDUFAF6 Gene
Interacting Proteins for NDUFAF6 Gene
GPS-Prot Interaction Network for NDUFAF6
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0009058 | biosynthetic process | IEA | -- |
| GO:0032981 | mitochondrial respiratory chain complex I assembly | TAS | -- |
No data available for SIGNOR curated interactions for NDUFAF6 Gene
Transcripts for NDUFAF6 Gene
mRNA/cDNA for NDUFAF6 Gene
- (38) REFSEQ mRNAs :
- (4) Additional mRNA sequences :
- (83) Selected AceView cDNA sequences:
- (18) Ensembl transcripts including schematic representations, and UCSC links where relevant :
-
- ENST00000523378 949 bps (uc064osn.1)
- ENST00000396113 2549 bps (uc064oso.1)
- ENST00000519136 816 bps (uc064osp.1)
- ENST00000396111 1869 bps (uc064oss.1)
- ENST00000521587 453 bps (uc064ost.1)
Unigene Clusters for NDUFAF6 Gene
CRISPR Products
-
OriGene CRISPR knockouts for NDUFAF6
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for NDUFAF6
- genomics-online: gRNA clones - Search results for 47 available NDUFAF6 gene related products
- Overview of 47 available NDUFAF6 gene related products
- Applied Biological Materials CRISPR for NDUFAF6
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for NDUFAF6
- GenScript: Design CRISPR guide RNA sequences for NDUFAF6
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for NDUFAF6
- Browse OriGene Inhibitory RNA Products For NDUFAF6
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NDUFAF6
- genomics-online: shRNA clones - Search results for 47 available NDUFAF6 gene related products
- Overview of 47 available NDUFAF6 gene related products
Clone Products
-
GenScript: Next-day shipping of latest version cDNA ORF clones for NDUFAF6 in any vector
- NM_152416.3
- XM_011516834.2
- XM_011516835.2
- XM_011516838.2
- XM_011516842.2
- XM_005250790.2
- XM_011516841.2
- XM_005250793.2
- XM_011516833.2
- XM_011516839.2
- XM_011516837.2
- XM_005250791.2
- XM_011516836.2
- XM_011516840.2
- XM_005250792.2
- XM_017013027.1
- NM_001330582.1
- NM_001354524.1
- NM_001354528.1
- NM_001354534.1
- NM_001354518.1
- XM_017013032.1
- XM_017013038.1
- NM_001354521.1
- NM_001354521.1
- NM_001354517.1
- NM_001354527.1
- XM_017013028.1
- XM_017013039.1
- NM_001354531.1
- NM_001354532.1
- NM_001354522.1
- NM_001354525.1
- NM_001354529.1
- XM_017013030.1
- XM_017013035.1
- NM_001354516.1
- XM_017013037.1
- XM_017013029.1
- XM_017013034.1
- NM_001354533.1
- NM_001354515.1
- NM_001354514.1
- NM_001354519.1
- XM_017013031.1
- XM_017013036.1
- XM_017013033.1
- Sino Biological Human cDNA Clone for NDUFAF6
- VectorBuilder custom plasmid, inducible vectors for NDUFAF6
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for NDUFAF6
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for NDUFAF6
- Applied Biological Materials Clones for NDUFAF6
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| ExUns: | 1a | · | 1b | · | 1c | ^ | 2 | ^ | 3 | ^ | 4a | · | 4b |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | |||||||||||||
| SP2: | - | ||||||||||||
| SP3: | - |
Expression for NDUFAF6 Gene
This gene is overexpressed in Heart (13.6), Brain (9.4), Adrenal (8.3), and Salivary gland (7.0).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for NDUFAF6 Gene
NURSA nuclear receptor signaling pathways regulating expression of NDUFAF6 Gene:
NDUFAF6SOURCE GeneReport for Unigene cluster for NDUFAF6 Gene:
Hs.729144Evidence on tissue expression from TISSUES for NDUFAF6 Gene
- Nervous system(4.2)
Phenotype-based relationships between genes and organs from Gene ORGANizer for NDUFAF6 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 NDUFAF6
- genomics-online: primer clones - Search results for 47 available NDUFAF6 gene related products
- Overview of 47 available NDUFAF6 gene related products
Gene Expression Assay Products
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for NDUFAF6 Gene
Orthologs for NDUFAF6 Gene
This gene was present in the common ancestor of eukaryotes.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | NDUFAF6 34 33 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | NDUFAF6 34 33 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | NDUFAF6 34 33 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | NDUFAF6 34 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Ndufaf6 16 34 33 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Ndufaf6 33 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | NDUFAF6 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | NDUFAF6 34 |
|
OneToOne | |
| C2H8ORF38 33 |
|
||||
| lizard (Anolis carolinensis) |
Reptilia | NDUFAF6 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | ndufaf6 33 |
|
||
| African clawed frog (Xenopus laevis) |
Amphibia | Xl.11651 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | ndufaf6 34 33 |
|
OneToOne | |
| Dr.7072 33 |
|
||||
| fruit fly (Drosophila melanogaster) |
Insecta | CG15738 34 33 |
|
OneToOne | |
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP000326 33 |
|
||
| worm (Caenorhabditis elegans) |
Secernentea | CELE_B0334.5 33 |
|
||
| B0334.5 34 |
|
OneToOne | |||
| thale cress (Arabidopsis thaliana) |
eudicotyledons | AT1G62730 33 |
|
||
| rice (Oryza sativa) |
Liliopsida | Os06g0104100 33 |
|
||
| bread mold (Neurospora crassa) |
Ascomycetes | NCU09517 33 |
|
- Species where no ortholog for NDUFAF6 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)
- 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 blast fungus (Magnaporthe grisea)
- schistosome parasite (Schistosoma mansoni)
- sea anemone (Nematostella vectensis)
- sea squirt (Ciona intestinalis)
- sea squirt (Ciona savignyi)
- sea urchin (Strongylocentrotus purpuratus)
- sorghum (Sorghum bicolor)
- soybean (Glycine max)
- stem rust fungus (Puccinia graminis)
- sugarcane (Saccharum officinarum)
- tomato (Lycopersicon esculentum)
- toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- wheat (Triticum aestivum)
Evolution for NDUFAF6 Gene
- ENSEMBL:
- Gene Tree for NDUFAF6 (if available)
- TreeFam:
- Gene Tree for NDUFAF6 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for NDUFAF6: view image
Paralogs for NDUFAF6 Gene
No data available for Paralogs for NDUFAF6 Gene
Variants for NDUFAF6 Gene
| SNP ID | Clin | Chr 08 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1057519084 | complex I deficiency (MT-C1D) [MIM:252010], pathogenic, Leigh syndrome due to mitochondrial complex I deficiency | 95,032,023(+) | T/C | 5_prime_UTR_variant, coding_sequence_variant, genic_upstream_transcript_variant, missense_variant, non_coding_transcript_variant | |
| rs1057519085 | complex I deficiency (MT-C1D) [MIM:252010], pathogenic, Leigh syndrome due to mitochondrial complex I deficiency | 95,032,003(+) | A/T | 5_prime_UTR_variant, coding_sequence_variant, genic_upstream_transcript_variant, missense_variant, non_coding_transcript_variant | |
| rs1057519086 | complex I deficiency (MT-C1D) [MIM:252010], pathogenic, Leigh syndrome due to mitochondrial complex I deficiency | 95,052,177(+) | A/G | coding_sequence_variant, intron_variant, missense_variant | |
| rs137853184 | pathogenic, Leigh syndrome due to mitochondrial complex I deficiency, Mitochondrial complex I deficiency (MT-C1D) [MIM:252010] | 95,032,093(+) | A/G | 5_prime_UTR_variant, coding_sequence_variant, genic_upstream_transcript_variant, missense_variant, non_coding_transcript_variant | |
| rs201088736 | pathogenic, Leigh syndrome due to mitochondrial complex I deficiency | 95,045,599(+) | G/C | coding_sequence_variant, missense_variant, non_coding_transcript_variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| esv25638 | CNV | loss | 19812545 |
| esv3618095 | CNV | loss | 21293372 |
| nsv1117841 | CNV | deletion | 24896259 |
| nsv508520 | CNV | deletion | 20534489 |
Residual Variation Intolerance Score:
49% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
1.26;
25.15% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for NDUFAF6 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NDUFAF6 Gene
Disorders for NDUFAF6 Gene
(6) MalaCards diseases for NDUFAF6 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| leigh syndrome |
|
|
| leigh syndrome with leukodystrophy |
|
|
| mitochondrial complex i deficiency |
|
|
| fanconi syndrome |
|
|
| mitochondrial metabolism disease |
|
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Search NDUFAF6 in MalaCards
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UniProtKB/Swiss-Prot
NDUF6_HUMAN- Mitochondrial complex I deficiency (MT-C1D) [MIM:252010]: A disorder of the mitochondrial respiratory chain that causes a wide range of clinical manifestations 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. {ECO:0000269 PubMed:18614015, ECO:0000269 PubMed:22019594, ECO:0000269 PubMed:26741492}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Additional Disease Information for NDUFAF6
No data available for Genatlas for NDUFAF6 Gene
Publications for NDUFAF6 Gene
- Mutations in the gene encoding C8orf38 block complex I assembly by inhibiting production of the mitochondria-encoded subunit ND1. (PMID: 22019594) McKenzie M … Ryan MT (Journal of molecular biology 2011) 2 3 4 58
- The C8ORF38 homologue Sicily is a cytosolic chaperone for a mitochondrial complex I subunit. (PMID: 23509070) Zhang K … Bellen HJ (The Journal of cell biology 2013) 2 3 58
- A mitochondrial protein compendium elucidates complex I disease biology. (PMID: 18614015) Pagliarini DJ … Mootha VK (Cell 2008) 3 4 58
- Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 58
- Evolution, structure and membrane association of NDUFAF6, an assembly factor for NADH:ubiquinone oxidoreductase (Complex I). (PMID: 28476317) Lemire BD (Mitochondrion 2017) 3 58
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