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SDHB

OverviewProducts

Function

Iron-sulfur protein (IP) 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).

Involvement in disease

Pheochromocytoma

PCC

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.

None

Disease susceptibility is associated with variants affecting the gene represented in this entry.

Paragangliomas 4

PGL4

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.

None

The disease is caused by variants affecting the gene represented in this entry.

Paraganglioma and gastric stromal sarcoma

PGGSS

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.

None

The disease is caused by variants affecting the gene represented in this entry.

Pathway

Carbohydrate metabolism; tricarboxylic acid cycle; fumarate from succinate (eukaryal route): step 1/1.

Sequence similarities

Belongs to the succinate dehydrogenase/fumarate reductase iron-sulfur protein family.

Cellular localization

  • Mitochondrion inner membrane
  • Peripheral membrane protein
  • Matrix side

Alternative names

  • Iron-sulfur subunit of complex II
  • Ip
  • SDH1
  • SDH
  • SDHB

Database links

Target type

Proteins

Molecular weight

31630Da