SDHB - Succinate dehydrogenase [ubiquinone] iron-sulfur subunit, mitochondrial - human protein (Medical)
 
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SDHB »  Succinate dehydrogenase [ubiquinone] iron-sulfur subunit, mitochondrial   [ EC 1.3.5.1 ]
 
Protein also known as:  Iron-sulfur subunit of complex II (Ip).
Gene name:  SDHB
Entry whose protein(s) existence is based on evidence at protein level
extend overview
1 109 1
GENE REF ISO

Displayed isoform: Iso 1

 
 

Medical

 show evidences
Disease 
Pheochromocytoma (PCC) [MIM:171300]: A catecholamine-producing tumor of chromaffin tissue of the adrenal medulla or sympathetic paraganglia. The cardinal symptom, reflecting the increased secretion of epinephrine and norepinephrine, is hypertension, which may be persistent or intermittent. Disease susceptibility is associated with variations affecting the gene represented in this entry.  
  • CuratedUniProtKB
Paragangliomas 4 (PGL4) [MIM:115310]: 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. The disease is caused by mutations affecting the gene represented in this entry.  
  • CuratedUniProtKB
Paraganglioma and gastric stromal sarcoma (PGGSS) [MIM:606864]: Gastrointestinal stromal tumors may be sporadic or inherited in an autosomal dominant manner, alone or as a component of a syndrome associated with other tumors, such as in the context of neurofibromatosis type 1 (NF1). Patients have both gastrointestinal stromal tumors and paragangliomas. Susceptibility to the tumors was inherited in an apparently autosomal dominant manner, with incomplete penetrance. The disease is caused by mutations affecting the gene represented in this entry.  
  • CuratedUniProtKB
Cowden syndrome 2 (CWS2) [MIM:612359]: A form of Cowden syndrome, a hamartomatous polyposis syndrome with age-related penetrance. Cowden syndrome is characterized by hamartomatous lesions affecting derivatives of ectodermal, mesodermal and endodermal layers, macrocephaly, facial trichilemmomas (benign tumors of the hair follicle infundibulum), acral keratoses, papillomatous papules, and elevated risk for development of several types of malignancy, particularly breast carcinoma in women and thyroid carcinoma in both men and women. Colon cancer and renal cell carcinoma have also been reported. Hamartomas can be found in virtually every organ, but most commonly in the skin, gastrointestinal tract, breast and thyroid. The disease may be caused by mutations affecting the gene represented in this entry.  
  • CuratedUniProtKB
According to Orphanet, this protein is involved in the following diseases:
Carney-Stratakis syndrome  97286  
Cowden syndrome  201  
Gastrointestinal stromal tumor  44890  
Hereditary pheochromocytoma-paraganglioma  29072  
Isolated succinate-CoQ reductase deficiency  3208  
Pharmaceutical 
According to DrugBank, this protein binds/interacts with the following drug:
Succinic acid  DB00139  
 

Keywords

Disease 
Disease mutation  definition   [KW-0225]
Technical term 
Reference proteome  definition   [KW-1185]
 

Further external links

Organism-specific databases
CTD: 6390
MIM: 606864
MIM: 171300
MIM: 115310
MIM: 612359
PharmGKB: PA35606
Polymorphism databases
DMDM: 20455488
Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.