SDHD - Succinate dehydrogenase [ubiquinone] cytochrome b small subunit, mitochondrial - human protein (Medical)
 
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SDHD »  Succinate dehydrogenase [ubiquinone] cytochrome b small subunit, mitochondrial  (CybS)
 
Protein also known as:  Succinate-ubiquinone oxidoreductase cytochrome b small subunit.
Gene name:  SDHD
Family name: CybS
Entry whose protein(s) existence is based on evidence at protein level
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GENE REF ISO

Displayed isoform: Iso 1     

 
 

Medical

 show evidences
Disease 
Paragangliomas 1 (PGL1) [MIM:168000]: A neural crest tumor usually derived from the chromoreceptor tissue of a paraganglion. PGL1 is a rare autosomal dominant disorder which is characterized by the development of mostly benign, highly vascular, slowly growing tumors in the head and neck. In the head and neck region, the carotid body is the largest of all paraganglia and is also the most common site of the tumors. The disease is caused by mutations affecting the gene represented in this entry.  
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  • CuratedUniProtKB
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
Intestinal carcinoid tumor (ICT) [MIM:114900]: A yellow, well-differentiated, circumscribed tumor that arises from enterochromaffin cells in the small intestine or, less frequently, in other parts of the gastrointestinal tract. Disease susceptibility is associated with variations 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.  
1
  • CuratedUniProtKB
Cowden syndrome 3 (CWS3) [MIM:615106]: 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.  
1
  • CuratedUniProtKB
According to Orphanet, this protein is involved in the following diseases:
Carcinoid tumor and carcinoid syndrome  100093  
Carney-Stratakis syndrome  97286  
Cowden syndrome  201  
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

CTD: 6392
GeneReviews: SDHD
MIM: 114900
MIM: 171300
MIM: 606864
MIM: 168000
MIM: 615106
PharmGKB: PA35608
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.