Gene

ndufaf6

ID
ZDB-GENE-100112-1
Name
NADH:ubiquinone oxidoreductase complex assembly factor 6
Symbol
ndufaf6 Nomenclature History
Previous Names
  • gb:bc097249 (1)
  • si:ch211-233e16.1
Type
protein_coding_gene
Location
Chr: 16 Mapping Details/Browsers
Description
Predicted to be involved in mitochondrial respiratory chain complex I assembly. Predicted to localize to mitochondrion. Human ortholog(s) of this gene implicated in Fanconi syndrome and mitochondrial complex I deficiency. Orthologous to human NDUFAF6 (NADH:ubiquinone oxidoreductase complex assembly factor 6).
Genome Resources
Note
None
Expression
All Expression Data
Fig. 2 from Lam et al., 2011
Cross-Species Comparison
High Throughput Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
No data available
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With ndufaf6 Human Ortholog
Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
Fanconi renotubular syndrome 5 Alliance Fanconi renotubular syndrome 5 618913
Mitochondrial complex I deficiency, nuclear type 17 618239
Associated With ndufaf6 Via Experimental Models
No data available
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Homologous_superfamily IPR008949 Isoprenoid synthase domain superfamily
Domain Details Per Protein
Protein Length Isoprenoid synthase domain superfamily
UniProtKB:F1QP26 328
UniProtKB:Q4V8Q6 344
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Ensembl Gene Tree
Citations