SDHB
entrez
6390
canonical
uniprot
P21912
canonical
ensembl
ENSG00000117118
resolver
ensp
ENSP00000364649
resolver
ensp
ENSP00000519322
resolver
enst
ENST00000375499
resolver
enst
ENST00000485515
resolver
genesymbol
SDHB
resolver
genesymbol_syn
SDH
resolver
genesymbol_syn
SDH1
resolver
hgnc
HGNC:10681
resolver
uniprot
A0AAQ5BHD9
resolver
uniprot
B2R545
resolver
uniprot
Q0QEY7
resolver
uniprot
Q9NQ12
resolver
uniprot_entry
A0AAQ5BHD9_HUMAN
resolver
uniprot_entry
SDHB_HUMAN
resolver
uniprot_sec
B2R545
resolver
uniprot_sec
Q0QEY7
resolver
uniprot_sec
Q9NQ12
resolver
activity_regulation
ACTIVITY REGULATION: Enol-oxaloacetate inhibits the succinate dehydrogenase activity. {ECO:0000250|UniProtKB:Q3T189}.
uniprot
proteins
amino_acid_sequence
MAAVVALSLRRRLPATTLGGACLQASRGAQTAAATAPRIKKFAIYRWDPDKAGDKPHMQTYEVDLNKCGPMVLDALIKIKNEVDSTLTFRRSCREGICGSCAMNINGGNTLACTRRIDTNLNKVSKIYPLPHMYVIKDLVPDLSNFYAQYKSIEPYLKKKDESQEGKQQYLQSIEEREKLDGLYECILCACCSTSCPSYWWNGDKYLGPAVLMQAYRWMIDSRDDFTEERLAKLQDPFSLYRCHTIMNCTRTCPKGLNPGKAIAEIKKMMATYKEKKASV
uniprot
proteins
disease_involvement
DISEASE: Pheochromocytoma/paraganglioma syndrome 4 (PPGL4) [MIM:115310]: 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. PPGL4 inheritance is autosomal dominant. {ECO:0000269|PubMed:11404820, ECO:0000269|PubMed:11897817, ECO:0000269|PubMed:12000816, ECO:0000269|PubMed:12213855, ECO:0000269|PubMed:12618761, ECO:0000269|PubMed:14500403, ECO:0000269|PubMed:14715873, ECO:0000269|PubMed:14974914, ECO:0000269|PubMed:15328326, ECO:0000269|PubMed:17634472}. 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.; DISEASE: Mitochondrial complex II deficiency, nuclear type 4 (MC2DN4) [MIM:619224]: 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. MC2DN4 is a severe, autosomal recessive form characterized by early-onset progressive neurodegeneration with leukoencephalopathy. {ECO:0000269|PubMed:22972948, ECO:0000269|PubMed:26642834, ECO:0000269|PubMed:26925370, ECO:0000269|PubMed:27604842, ECO:0000269|PubMed:32124427}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
1.1.5.-
uniprot
proteins
ec_number
1.3.5.1
uniprot
proteins
function
FUNCTION: Iron-sulfur protein (IP) subunit of the succinate dehydrogenase complex (mitochondrial respiratory chain complex II), responsible for transferring electrons from succinate to ubiquinone (coenzyme Q) (PubMed:26925370, PubMed:27604842). 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:Q3T189, ECO:0000269|PubMed:26925370, ECO:0000269|PubMed:27604842}.
uniprot
proteins
mass_dalton
31630
uniprot
proteins
pathway_participation
PATHWAY: Carbohydrate metabolism; tricarboxylic acid cycle; fumarate from succinate (eukaryal route): step 1/1. {ECO:0000269|PubMed:26925370, ECO:0000269|PubMed:27604842}.
uniprot
proteins
protein_family
Succinate dehydrogenase/fumarate reductase iron-sulfur protein family
uniprot
proteins
pubmed
11404820
uniprot
proteins
pubmed
11897817
uniprot
proteins
pubmed
12000816
uniprot
proteins
pubmed
12213855
uniprot
proteins
pubmed
12618761
uniprot
proteins
pubmed
14500403
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
14715873
uniprot
proteins
pubmed
14974914
uniprot
proteins
pubmed
15328326
uniprot
proteins
pubmed
15473885
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16710414
uniprot
proteins
pubmed
16751257
uniprot
proteins
pubmed
17634472
uniprot
proteins
pubmed
17804857
uniprot
proteins
pubmed
18678321
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
22972948
uniprot
proteins
pubmed
2302193
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
2494655
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
26642834
uniprot
proteins
pubmed
26749241
uniprot
proteins
pubmed
26925370
uniprot
proteins
pubmed
27604842
uniprot
proteins
pubmed
32124427
uniprot
proteins
pubmed
33092197
uniprot
proteins
pubmed
37098072
uniprot
proteins
pubmed
7622059
uniprot
proteins
sequence_length
280
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion inner membrane {ECO:0000269|PubMed:37098072}; Peripheral membrane protein {ECO:0000269|PubMed:37098072}; Matrix side {ECO:0000269|PubMed:37098072}.
uniprot
proteins