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FLASH GENE
Symbol NDUFS8 contributors: - updated : 11-07-2007
HGNC name NADH dehydrogenase (ubiquinone) Fe-S protein 8, 23kDa (NADH-coenzyme Q reductase)
HGNC id 7715
Corresponding disease
NDUFS8 Leigh syndrome, subacute necrotizing encephalopathy
Location 11q13      Physical location : 67.798.083 - 67.804.114
Synonym name iron-sulfur protein 8,complex 1 of the respiratory chain
Synonym symbol(s) TYKY
EC.number 1.6.5.3
DNA
TYPE functioning gene
STRUCTURE 6.00 kb     7 Exon(s)
10 Kb 5' upstream gene genomic sequence study
regulatory sequence Promoter
Binding site
text structure 3 Sp1 sites and one YY1 site were identified in this minimal promoter
MAPPING cloned   linked   status confirmed
Physical map
CABP2 11q13.1 calcium binding protein 2 GSTP1 11q13.3 glutathione S-transferase pi FLJ90834 11q13.1 hypothetical protein FLJ90834 NDUFV1 11q13 NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa LOC390213 11 similar to Double C2, gamma NUDT8 11q13.1 nudix (nucleoside diphosphate linked moiety X)-type motif 8 TBX10 11q13 T-box 10 ACY-3 11q13.1 aspartoacylase-3 ALDH3B2 11q13 aldehyde dehydrogenase 3 family, member B2 RPL37P2 11q13 ribosomal protein L37 pseudogene 2 LOC132740 11q13.1 similar to unc-93 homolog B1; unc93 (C.elegans) homolog B; unc-93 related protein LOC390215 11 similar to seven transmembrane helix receptor OR7E11P 11q11 olfactory receptor, family 7, subfamily E, member 11 pseudogene LOC390216 11 similar to mannosyltransferase LOC158490 11q13.1 similar to hypothetical protein FLJ10661 LOC387785 11 LOC387785 LOC390217 11 similar to chromosome 11 open reading frame2; chromosome  11 open reading frame2 LOC341128 11q13.1 similar to seven transmembrane helix receptor UNC93B1 11q13 unc-93 homolog B1 (C. elegans) ALDH3B1 11q13 aldehyde dehydrogenase 3 family, member B1 NDUFS8 11q13 NADH dehydrogenase (ubiquinone) Fe-S protein 8, 23kDa (NADH-coenzyme Q reductase) TCIRG1 11q13.4-q13.5 T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 protein a isoform 3 CHK 11q13.1 choline kinase CGI-85 11q13 choline kinase C11orf24 11q13 chromosome 11 open reading frame 24 LRP5 11q13 low density lipoprotein receptor-related protein 5
RNA
TRANSCRIPTS type messenger
EXPRESSION
Type ubiquitous
constitutive of
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestivesalivary gland   highly
Endocrineadrenal gland   highly
Visualeye   highly
tissue
SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
Connectiveadipose  highly
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
secondary structure forty different subunits (TYKY subunit)
mono polymer octamer
HOMOLOGY
interspecies homolog to C.elegans t20h4.5
Homologene
FAMILY complex 1,23kDa subunit family
CATEGORY enzyme , transport carrier
SUBCELLULAR LOCALIZATION     intracellular
intracellular,cytoplasm,organelle,mitochondria,inner
basic FUNCTION may donate electrons to ubiquinone
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
cell & other
REGULATION
ASSOCIATED DISORDERS
corresponding disease(s) NDUFS8
related resource MITOP database
Susceptibility
Variant & Polymorphism
Candidate gene
Marker
Therapy target
ANIMAL & CELL MODELS