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FLASH GENE
Symbol NDUFS7 contributors: mct - updated : 15-01-2020
HGNC name NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme Q reductase)
HGNC id 7714
Corresponding disease
NDUFS7 subacute necrotizing encephalopathy, Leigh syndrome
Location 19p13      Physical location : 1.383.882 - 1.395.587
Synonym name iron-sulfur protein 7, complex 1 of the respiratory chain
Synonym symbol(s) PSST, FLJ45860, FLJ46880
EC.number 1.6.5.3
DNA
TYPE functioning gene
STRUCTURE 11.00 kb     8 Exon(s)
MAPPING cloned Y linked   status provisional
RNA
TRANSCRIPTS type messenger
EXPRESSION
Type widely
constitutive of
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestiveintestinesmall intestine  highly
 salivary gland   highly
Nervousbrain   highly
Visualeye   highly
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Muscularstriatumskeletal highly
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
secondary structure forty subunits
HOMOLOGY
interspecies homolog to C.elegans W10D5.2
Homologene
FAMILY complex I 20 kDa subunit family
CATEGORY enzyme
SUBCELLULAR LOCALIZATION     intracellular
intracellular,cytoplasm,organelle,mitochondria,inner
basic FUNCTION
  • having NADH dehydrogenase (ubiquinone) activity
  • playing a role in role in the biogenesis of complex I
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component component of the complex I multi-subunit enzyme of the oxidative phosphorylation (OXPHOS)
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • binds 1 4Fe-4S cluster
  • NDUFAF5 catalyzes the introduction of a hydroxyl group, into Arg-73 in the NDUFS7 subunit of human complex I
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) NDUFS7
    related resource MITOP database
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS