SDHD
entrez
6392
canonical
uniprot
O14521
canonical
ensembl
ENSG00000204370
resolver
ensp
ENSP00000364699
resolver
ensp
ENSP00000432005
resolver
ensp
ENSP00000436217
resolver
ensp
ENSP00000436669
resolver
genesymbol
SDHD
resolver
genesymbol_syn
SDH4
resolver
hgnc
HGNC:10683
resolver
uniprot
A0A0S2Z4H7
resolver
uniprot
A0A0S2Z4J3
resolver
uniprot
A6ND90
resolver
uniprot
B3KQQ8
resolver
uniprot
E9PIC0
resolver
uniprot
E9PIG3
resolver
uniprot
E9PQI9
resolver
uniprot
Q53XW5
resolver
uniprot
Q6IRW2
resolver
uniprot_entry
A0A0S2Z4H7_HUMAN
resolver
uniprot_entry
A0A0S2Z4J3_HUMAN
resolver
uniprot_entry
DHSD_HUMAN
resolver
uniprot_sec
A6ND90
resolver
uniprot_sec
B3KQQ8
resolver
uniprot_sec
E9PIC0
resolver
uniprot_sec
E9PIG3
resolver
uniprot_sec
E9PQI9
resolver
uniprot_sec
Q53XW5
resolver
uniprot_sec
Q6IRW2
resolver
amino_acid_sequence
MAVLWRLSAVCGALGGRALLLRTPVVRPAHISAFLQDRPIPEWCGVQHIHLSPSHHSGSKAASLHWTSERVVSVLLLGLLPAAYLNPCSAMDYSLAAALTLHGHWGLGQVVTDYVHGDALQKAAKAGLLALSALTFAGLCYFNYHDVGICKAVAMLWKL
uniprot
proteins
disease_involvement
DISEASE: Pheochromocytoma/paraganglioma syndrome 1 (PPGL1) [MIM:168000]: 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. PPGL1 inheritance is autosomal dominant. {ECO:0000269|PubMed:10657297, ECO:0000269|PubMed:11156372, ECO:0000269|PubMed:11343322, ECO:0000269|PubMed:11391796, ECO:0000269|PubMed:11391798, ECO:0000269|PubMed:12000816, ECO:0000269|PubMed:15328326}. 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 3 (MC2DN3) [MIM:619167]: 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. {ECO:0000269|PubMed:24367056, ECO:0000269|PubMed:26008905}. 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:10482792, 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:Q95123, ECO:0000269|PubMed:10482792, ECO:0000269|PubMed:9533030}.
uniprot
proteins
mass_dalton
17043
uniprot
proteins
pathway_participation
PATHWAY: Carbohydrate metabolism; tricarboxylic acid cycle. {ECO:0000269|PubMed:10482792, ECO:0000269|PubMed:9533030}.
uniprot
proteins
protein_family
CybS family
uniprot
proteins
pubmed
10482792
uniprot
proteins
pubmed
10657297
uniprot
proteins
pubmed
11156372
uniprot
proteins
pubmed
11343322
uniprot
proteins
pubmed
11391796
uniprot
proteins
pubmed
11391798
uniprot
proteins
pubmed
11526495
uniprot
proteins
pubmed
12000816
uniprot
proteins
pubmed
12007193
uniprot
proteins
pubmed
12696072
uniprot
proteins
pubmed
14500403
uniprot
proteins
pubmed
15032977
uniprot
proteins
pubmed
15328326
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16303743
uniprot
proteins
pubmed
16554811
uniprot
proteins
pubmed
17804857
uniprot
proteins
pubmed
18678321
uniprot
proteins
pubmed
18987736
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
24367056
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
26008905
uniprot
proteins
pubmed
37098072
uniprot
proteins
pubmed
9533030
uniprot
proteins
sequence_length
159
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Mitochondrion inner membrane {ECO:0000269|PubMed:37098072, ECO:0000269|PubMed:9533030}; Multi-pass membrane protein {ECO:0000255}.
uniprot
proteins
transmembrane_region
TRANSMEM 64..85; /note="Helical"; /evidence="ECO:0000269|PubMed:37098072, ECO:0007744|PDB:8GS8"; TRANSMEM 91..111; /note="Helical"; /evidence="ECO:0000269|PubMed:37098072, ECO:0007744|PDB:8GS8"; TRANSMEM 123..144; /note="Helical"; /evidence="ECO:0000269|PubMed:37098072, ECO:0007744|PDB:8GS8
uniprot
proteins