About   Help   FAQ
Ndufaf6 Gene Detail
Summary
  • Symbol
    Ndufaf6
  • Name
    NADH dehydrogenase (ubiquinone) complex I, assembly factor 6
  • Synonyms
    2310030N02Rik
  • Feature Type
    protein coding gene
  • IDs
    MGI:1924197
    NCBI Gene: 76947
Location & Maps
more
  • Sequence Map
    Chr4:11051045-11076205 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      25161 bp   ±  kb flank

  • Genome Browsers
Homology
more
  • Human Ortholog
    NDUFAF6, NADH:ubiquinone oxidoreductase complex assembly factor 6
  • Vertebrate Orthologs
    10
  • Human Ortholog
    NDUFAF6, NADH:ubiquinone oxidoreductase complex assembly factor 6
    Orthology source: HGNC, HomoloGene
  • Synonyms
    C8orf38
  • Links
    NCBI Gene ID: 137682
    neXtProt AC: NX_Q330K2

  • Chr Location
    8q22.1; chr8:94895451-95058716 (+)  GRCh38.p2

Human Diseases
more
  • Diseases
    1 with human NDUFAF6 associations

Human Disease Mouse Models
       Leigh Syndrome; LS   OMIM: 256000
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
less
  • Phenotype Summary
    7 phenotype references
  • All Mutations and Alleles
    13
  • Gene trapped
    10
  • Targeted
    3
  • Incidental Mutations
    APF , CvDC
Gene Ontology
(GO)
Classifications
less
  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
less
  • cDNA Data
Interactions
less
Sequences &
Gene Models
less
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000004510 VEGA Gene Model | MGI Sequence Detail 25161 C57BL/6J ±  kb
transcript OTTMUST00000010214 VEGA | MGI Sequence Detail 1082 Not Applicable  
polypeptide OTTMUSP00000004859 VEGA | MGI Sequence Detail 333 Not Applicable  
For the selected sequence
Polymorphisms
less
  • SNPs within 2kb
    181 from dbSNP Build 142
Protein
Information
less
  • UniProt
    1 Sequence
  • Protein Ontology
    PR:000032176 NADH dehydrogenase (ubiquinone) complex I, assembly factor 6
  • InterPro Domains
    IPR008949 Isoprenoid synthase domain
    IPR002060 Squalene/phytoene synthase
Molecular
Reagents
less
  • All nucleic 13
    cDNA 13

    Microarray probesets 3
References
more
  • Summaries
    All 29
    Gene Ontology 4
    Phenotypes 7
  • Earliest
    J:65060 Kawai J, et al., Functional annotation of a full-length mouse cDNA collection. Nature. 2001 Feb 8;409(6821):685-90
  • Latest
    J:173534 Skarnes WC, et al., A conditional knockout resource for the genome-wide study of mouse gene function. Nature. 2011 Jun 16;474(7351):337-42

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
05/17/2016
MGI 6.03
The Jackson Laboratory