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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
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
    Physical map
    MGC50104 11q23.2 Similar to RIKEN cDNA 1810046K07 gene LOC120376 11q23.2 hypothetical protein LOC120376 POU2AF1 11q23.1 POU domain, class 2, associating factor 1 BTG4 11q23.2-q23.3 B-cell translocation gene 4 LOC387807 11 hypothetical gene supported by AK128145; BC039505 LOC143903 11q23.2 layilin SIK2 11q23.2 salt-inducible serine/threonine kinase 2 PPP2R1B 11q23 protein phosphatase 2 (formerly 2A), regulatory subunit A (PR 65), beta isoform DIBD1 11q23 disrupted in bipolar affective disorder 1 C11orf1 11p15.5 chromosome 11 open reading frame 1 CRYAB 11q22.3-q23.1 crystallin, alpha B HSPB2 11q22.3-q23.1 heat shock 27kDa protein 2 MGC14839 11q23.2 similar to RIKEN cDNA 2310030G06 gene DIXDC1 DIX domain containing 1 LOC387808 11 similar to KIAA1735 protein DLAT 11q23.1 dihydrolipoamide S-acetyltransferase (E2 component of pyruvate dehydrogenase complex) LOC246731 11q23 peptidyl prolyl isomerase H (cyclophilin H) pseudogene LOC120379 11q23.2 hypothetical protein BC019238 FLJ10726 11q23.2 hypothetical protein FLJ10726 TIMM8B 11q23.1-q23.2 translocase of inner mitochondrial membrane 8 homolog B (yeast) SDHD 11q22.3-q23.1 succinate dehydrogenase complex, subunit D, integral membrane protein IL18 11q22.2-q22.3 interleukin 18 (interferon-gamma-inducing factor) TEX12 11q22 testis expressed sequence 12 BCDO2 11q22.3-q23.1 beta-carotene dioxygenase 2 MRPS36P4 11q23.2 mitochondrial ribosomal protein S36 pseudogene PTS 11q22.3-q23.3 6-pyruvoyltetrahydropterin synthase PLET1 11q23.2 placenta expressed transcript 1 LOC387809 11 similar to heat shock 70kD protein binding protein; progesterone receptor-associated p48 protein; putative tumor suppressor ST13; Hsp70-interacting protein LOC387810 11 LOC387810
    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
    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