SDHD

This gene encodes a member of complex II of the respiratory chain, which is responsible for the oxidation of succinate. The encoded protein is one of two integral membrane proteins anchoring the complex to the matrix side of the mitochondrial inner membrane. Mutations in this gene are associated with the formation of tumors, including hereditary paraganglioma. Transmission of disease occurs almost exclusively through the paternal allele, suggesting that this locus may be maternally imprinted. There are pseudogenes for this gene on chromosomes 1, 2, 3, 7, and 18. Alternative splicing results in multiple transcript variants.

Succinate Dehydrogenase Complex Subunit D

Membrane-anchoring 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).

Biological Process cellular response to hypoxiaIEA:Ensembl
Biological Process mitochondrial electron transport, succinate to ubiquinoneManual Assertion Based On ExperimentIBA:GO_Central
Biological Process proton motive force-driven mitochondrial ATP synthesis1 PublicationIC:ComplexPortal
Biological Process regulation of catecholamine secretionIEA:Ensembl
Biological Process tricarboxylic acid cycleManual Assertion Based On ExperimentIDA:UniProtKB

Mitochondrion inner membrane

Paragangliomas 1 (PGL1):
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.
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.
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.
Mitochondrial complex II deficiency, nuclear type 3 (MC2DN3):
A form of mitochondrial complex II deficiency, a disorder with heterogeneous clinical manifestations. Some patients have multisystem involvement of the brain, heart, muscle, liver, and kidneys resulting in death in infancy, whereas others have only isolated cardiac or muscle involvement with onset in adulthood and normal cognition. 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. MC2DN3 inheritance is autosomal recessive.

Mitochondrial matrix: 57-63
Helical: 64-85
Mitochondrial intermembrane: 86-90
Helical: 91-111
Mitochondrial matrix: 112-120
Helical: 121-142
Mitochondrial intermembrane: 143-159