SDHC
entrez
6391
canonical
uniprot
Q99643
canonical
ensembl
ENSG00000143252
resolver
ensp
ENSP00000356952
resolver
ensp
ENSP00000356953
resolver
ensp
ENSP00000376009
resolver
ensp
ENSP00000390558
resolver
ensp
ENSP00000423260
resolver
ensp
ENSP00000519355
resolver
ensp
ENSP00000519356
resolver
ensp
ENSP00000519357
resolver
ensp
ENSP00000669765
resolver
ensp
ENSP00000741042
resolver
enst
ENST00000714064
resolver
enst
ENST00000714065
resolver
enst
ENST00000714066
resolver
genesymbol
SDHC
resolver
genesymbol_syn
CYB560
resolver
genesymbol_syn
SDH3
resolver
hgnc
HGNC:10682
resolver
uniprot
A0A0S2Z4B7
resolver
uniprot
A0A0S2Z4C9
resolver
uniprot
A0AAQ5BHE7
resolver
uniprot
O75609
resolver
uniprot
Q3C259
resolver
uniprot
Q3C2D8
resolver
uniprot
Q3C2H4
resolver
uniprot
Q5VTH3
resolver
uniprot_entry
A0A0S2Z4B7_HUMAN
resolver
uniprot_entry
A0A0S2Z4C9_HUMAN
resolver
uniprot_entry
A0AAQ5BHE7_HUMAN
resolver
uniprot_entry
C560_HUMAN
resolver
uniprot_sec
O75609
resolver
uniprot_sec
Q3C259
resolver
uniprot_sec
Q3C2D8
resolver
uniprot_sec
Q3C2H4
resolver
uniprot_sec
Q5VTH3
resolver
amino_acid_sequence
MAALLLRHVGRHCLRAHFSPQLCIRNAVPLGTTAKEEMERFWNKNIGSNRPLSPHITIYSWSLPMAMSICHRGTGIALSAGVSLFGMSALLLPGNFESYLELVKSLCLGPALIHTAKFALVFPLMYHTWNGIRHLMWDLGKGLKIPQLYQSGVVVLVLTVLSSMGLAAM
uniprot
proteins
disease_involvement
DISEASE: Pheochromocytoma/paraganglioma syndrome 3 (PPGL3) [MIM:605373]: A form of pheochromocytoma/paraganglioma syndrome, a tumor predisposition syndrome characterized by the development of neuroendocrine tumors, usually in adulthood. Pheochromocytomas are catecholamine-producing tumors that arise from chromaffin cells in the adrenal medulla. Paragangliomas develop from sympathetic paraganglia in the thorax, abdomen, and pelvis, as well as from parasympathetic paraganglia in the head and neck. PPGL3 inheritance is autosomal dominant. {ECO:0000269|PubMed:11062460}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: 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. {ECO:0000269|PubMed:17804857}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
function
FUNCTION: 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) (PubMed:9533030). SDH also oxidizes malate to the non-canonical enol form of oxaloacetate, enol-oxaloacetate (By similarity). Enol-oxaloacetate, which is a potent inhibitor of the succinate dehydrogenase activity, is further isomerized into keto-oxaloacetate (By similarity). {ECO:0000250|UniProtKB:P35720, ECO:0000269|PubMed:9533030}.
uniprot
proteins
mass_dalton
18610
uniprot
proteins
pathway_participation
PATHWAY: Carbohydrate metabolism; tricarboxylic acid cycle. {ECO:0000269|PubMed:9533030}.
uniprot
proteins
protein_family
Cytochrome b560 family
uniprot
proteins
pubmed
11062460
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
17804857
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
37098072
uniprot
proteins
pubmed
9533030
uniprot
proteins
pubmed
9714607
uniprot
proteins
pubmed
9851882
uniprot
proteins
sequence_length
169
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion inner membrane {ECO:0000269|PubMed:37098072}; Multi-pass membrane protein {ECO:0000269|PubMed:37098072}.
uniprot
proteins
transmembrane_region
TRANSMEM 66..90; /note="Helical"; /evidence="ECO:0000269|PubMed:37098072, ECO:0007744|PDB:8GS8"; TRANSMEM 111..139; /note="Helical"; /evidence="ECO:0000269|PubMed:37098072, ECO:0007744|PDB:8GS8"; TRANSMEM 147..167; /note="Helical"; /evidence="ECO:0000269|PubMed:37098072, ECO:0007744|PDB:8GS8
uniprot
proteins