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MGP002797

UniProt Annotations

Entry Information
Gene Namesuccinate dehydrogenase complex, subunit A, flavoprotein (Fp)
Protein EntrySDHA_HUMAN
UniProt IDP31040
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=3; Name=1; IsoId=P31040-1; Sequence=Displayed; Name=2; IsoId=P31040-2; Sequence=VSP_055077; Note=No experimental confirmation available.; Name=3; IsoId=P31040-3; Sequence=VSP_055078; Note=No experimental confirmation available.;
Catalytic ActivitySuccinate + a quinone = fumarate + a quinol.
CofactorName=FAD; Xref=ChEBI:CHEBI:57692;
DiseaseCardiomyopathy, dilated 1GG (CMD1GG) [MIM:613642]: A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. {ECO:0000269|PubMed:20551992}. Note=The disease is caused by mutations affecting the gene represented in this entry.
DiseaseLeigh syndrome (LS) [MIM:256000]: An early-onset progressive neurodegenerative disorder characterized by the presence of focal, bilateral lesions in one or more areas of the central nervous system including the brainstem, thalamus, basal ganglia, cerebellum and spinal cord. Clinical features depend on which areas of the central nervous system are involved and include subacute onset of psychomotor retardation, hypotonia, ataxia, weakness, vision loss, eye movement abnormalities, seizures, and dysphagia. {ECO:0000269|PubMed:10746566, ECO:0000269|PubMed:7550341}. Note=The disease is caused by mutations affecting the gene represented in this entry.
DiseaseMitochondrial complex II deficiency (MT-C2D) [MIM:252011]: A disorder of the mitochondrial respiratory chain with heterogeneous clinical manifestations. Clinical features include psychomotor regression in infants, poor growth with lack of speech development, severe spastic quadriplegia, dystonia, progressive leukoencephalopathy, muscle weakness, exercise intolerance, cardiomyopathy. Some patients manifest Leigh syndrome or Kearns-Sayre syndrome. Note=The disease is caused by mutations affecting the gene represented in this entry.
DiseaseParagangliomas 5 (PGL5) [MIM:614165]: A neural crest tumor usually derived from the chromoreceptor tissue of a paraganglion. Paragangliomas can develop at various body sites, including the head, neck, thorax and abdomen. Most commonly, they are located in the head and neck region, specifically at the carotid bifurcation, the jugular foramen, the vagal nerve, and in the middle ear. {ECO:0000269|PubMed:20484225}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionFlavoprotein (FP) subunit of succinate dehydrogenase (SDH) that is involved in complex II of the mitochondrial electron transport chain and is responsible for transferring electrons from succinate to ubiquinone (coenzyme Q). Can act as a tumor suppressor. {ECO:0000269|PubMed:20484225}.
InteractionP21912:SDHB; NbExp=2; IntAct=EBI-1057265, EBI-1056481;
PathwayCarbohydrate metabolism; tricarboxylic acid cycle; fumarate from succinate (eukaryal route): step 1/1.
PtmDeacetylated by SIRT3. {ECO:0000250}.
PtmPhosphorylation at Tyr-215 is important for efficient electron transfer in complex II and the prevention of ROS generation. {ECO:0000269|PubMed:22823520}.
Sequence CautionSequence=BAD92228.1; Type=Erroneous initiation; Note=Translation N-terminally shortened.; Evidence={ECO:0000305}; Sequence=CAA37886.1; Type=Miscellaneous discrepancy; Note=Differs extensively from that shown.; Evidence={ECO:0000305};
SimilarityBelongs to the FAD-dependent oxidoreductase 2 family. FRD/SDH subfamily. {ECO:0000305}.
Subcellular LocationMitochondrion inner membrane; Peripheral membrane protein; Matrix side.
SubunitComponent of complex II composed of four subunits: the flavoprotein (FP) SDHA, iron-sulfur protein (IP) SDHB, and a cytochrome b560 composed of SDHC and SDHD. Interacts with SDHAF2/SDH5; interaction is required for FAD attachment. Interacts with TRAP1. {ECO:0000269|PubMed:19628817, ECO:0000269|PubMed:23747254}.
Web ResourceName=TCA Cycle Gene Mutation Database; URL="http://chromium.liacs.nl/LOVD2/SDH/home.php?select_db=SDHA";
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