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FLASH GENE
Symbol SDHD contributors: mct/npt - updated : 16-03-2009
HGNC name succinate dehydrogenase complex, subunit D, integral membrane protein
HGNC id 10683
Corresponding disease
CWS3 Cowden syndrome 3
PGL1 hereditary paraganglioma 1
Location 11q23.1      Physical location : 111.957.570 - 111.966.517
Synonym name
  • cytochrome B, small subunit complex 2 of the respiratory chain
  • succinate-ubiquinone reductase membrane anchor subunit
    • Synonym symbol(s) PGL, CBT1, PGL1, SDH4, DHSD, CII-4, CybS, QPs3
    EC.number 1.3.99.1
    DNA
    TYPE functioning gene
    STRUCTURE 8.90 kb     4 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status confirmed
    Map see also PGL1
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    4 - 1382 10.9 159 - Hirawake (1997)
    EXPRESSION
    Type ubiquitous
    constitutive of
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Digestiveliver    
     salivary gland   highly
    Urinarybladder   highly
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Blood / hematopoieticbone marrow  highly
    Connectivebone   
    Muscularstriatumskeletal  
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    PROTEIN
    PHYSICAL PROPERTIES Hydrophobic
    STRUCTURE
    motifs/domains
  • membrane-anchor peptide
    • secondary structure four subunits, iron sulfur protein 2 membrane anchoring protein
    conjugated FlavoP , MetalloP , Other
    mono polymer tetramer
    HOMOLOGY
    interspecies homolog to C.elegans c02b4.3
    Homologene
    FAMILY
  • CybS family
    • CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria,inner
    intracellular,cytoplasm,organelle,membrane
    basic FUNCTION
  • succinate-ubiquinone oxidoreductase, catalyzing the seventh step of the citric acid cycle (tricarboxylic acid cycle)
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism organic acid
    signaling
    tricarboxylic acid
    a component
  • component 4 of complex II of mitochondrial respiratory chain (CII-4), oxidative phosphorylation,(OXPHOS)
    • INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) PGL1 , CWS3
    related resource MITOP database
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    tumoral   LOH    
    in pheochromocytoma
    tumoral   deletion    
    in Merkel cell carcinoma
    tumoral somatic mutation      
    in midgut carcinoid
    tumoral germinal mutation      
    in familial head and neck paraganglioma
    tumoral       loss of function
    in pheochromocytoma and paraganglioma
    tumoral germinal mutation      
    in Cowden and Cowden-like syndromes
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS