Details for: SDHB

Gene ID: 6390

Symbol: SDHB

Ensembl ID: ENSG00000117118

Description: succinate dehydrogenase complex iron sulfur subunit B

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 310.3277
    Cell Significance Index: -48.2700
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 185.8909
    Cell Significance Index: -47.1500
  • Cell Name: embryonic stem cell (CL0002322)
    Fold Change: 137.2383
    Cell Significance Index: -56.5400
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 127.1915
    Cell Significance Index: -60.0500
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 122.4102
    Cell Significance Index: -49.7300
  • Cell Name: peripheral blood mononuclear cell (CL2000001)
    Fold Change: 110.9869
    Cell Significance Index: -57.0900
  • Cell Name: ileal goblet cell (CL1000326)
    Fold Change: 89.5350
    Cell Significance Index: -60.0800
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 52.4539
    Cell Significance Index: -50.0800
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 44.2717
    Cell Significance Index: -54.5900
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 16.1552
    Cell Significance Index: -43.2800
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 14.4537
    Cell Significance Index: -57.0400
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 10.9427
    Cell Significance Index: -33.6100
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 8.3524
    Cell Significance Index: -18.2800
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: 1.8202
    Cell Significance Index: 523.7300
  • Cell Name: paneth cell of colon (CL0009009)
    Fold Change: 1.2760
    Cell Significance Index: 19.1200
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 1.2702
    Cell Significance Index: 87.8400
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 1.2522
    Cell Significance Index: 56.7600
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 1.0608
    Cell Significance Index: 191.2300
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 1.0318
    Cell Significance Index: 206.9800
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 0.9770
    Cell Significance Index: 13.3300
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: 0.8225
    Cell Significance Index: 58.1700
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.8101
    Cell Significance Index: 37.7700
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 0.7850
    Cell Significance Index: 92.5800
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.7724
    Cell Significance Index: 22.2600
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.7720
    Cell Significance Index: 94.9300
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.7598
    Cell Significance Index: 335.9300
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.7357
    Cell Significance Index: 56.4600
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.6798
    Cell Significance Index: 371.2800
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 0.6737
    Cell Significance Index: 17.9900
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.6462
    Cell Significance Index: 88.7400
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.5357
    Cell Significance Index: 370.5300
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 0.5325
    Cell Significance Index: 68.8000
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 0.5210
    Cell Significance Index: 38.8300
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: 0.5192
    Cell Significance Index: 24.4000
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 0.5030
    Cell Significance Index: 32.4500
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.4892
    Cell Significance Index: 30.8300
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 0.4653
    Cell Significance Index: 24.4300
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.4584
    Cell Significance Index: 58.7600
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.4495
    Cell Significance Index: 161.2200
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.4414
    Cell Significance Index: 22.9300
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.4225
    Cell Significance Index: 83.8400
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 0.3788
    Cell Significance Index: 10.3100
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.3553
    Cell Significance Index: 60.6700
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.3147
    Cell Significance Index: 284.1400
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: 0.2802
    Cell Significance Index: 8.2300
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.2702
    Cell Significance Index: 7.5500
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.2045
    Cell Significance Index: 38.9200
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.1297
    Cell Significance Index: 12.8300
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: 0.0674
    Cell Significance Index: 0.9900
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0603
    Cell Significance Index: 113.4900
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: 0.0546
    Cell Significance Index: 1.0100
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: 0.0431
    Cell Significance Index: 31.6100
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: 0.0119
    Cell Significance Index: 9.0300
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0076
    Cell Significance Index: 14.0200
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0007
    Cell Significance Index: -0.4700
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0068
    Cell Significance Index: -10.4400
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0126
    Cell Significance Index: -5.7000
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0160
    Cell Significance Index: -10.0200
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0231
    Cell Significance Index: -17.0900
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0270
    Cell Significance Index: -36.7000
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.0372
    Cell Significance Index: -1.1900
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0459
    Cell Significance Index: -4.6900
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.0586
    Cell Significance Index: -3.0500
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0639
    Cell Significance Index: -36.0500
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: -0.0729
    Cell Significance Index: -2.5600
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.1039
    Cell Significance Index: -3.6100
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -0.1236
    Cell Significance Index: -3.2500
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.1351
    Cell Significance Index: -28.4500
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.2188
    Cell Significance Index: -31.8100
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.2498
    Cell Significance Index: -14.0200
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.2640
    Cell Significance Index: -30.2400
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.2676
    Cell Significance Index: -31.1800
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: -0.2779
    Cell Significance Index: -31.7200
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.2882
    Cell Significance Index: -7.7100
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.2952
    Cell Significance Index: -4.9400
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.3321
    Cell Significance Index: -26.3000
  • Cell Name: peg cell (CL4033014)
    Fold Change: -0.3428
    Cell Significance Index: -7.9200
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.3607
    Cell Significance Index: -22.1700
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: -0.3962
    Cell Significance Index: -10.6200
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: -0.4168
    Cell Significance Index: -9.0300
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.4707
    Cell Significance Index: -31.6500
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -0.4774
    Cell Significance Index: -12.2000
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -0.4835
    Cell Significance Index: -10.1200
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.5028
    Cell Significance Index: -52.3600
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -0.5125
    Cell Significance Index: -12.8100
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: -0.5299
    Cell Significance Index: -4.8800
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.6120
    Cell Significance Index: -15.7300
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.6381
    Cell Significance Index: -28.2300
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: -0.6991
    Cell Significance Index: -11.9800
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.7444
    Cell Significance Index: -45.6400
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.8028
    Cell Significance Index: -30.4000
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: -0.8348
    Cell Significance Index: -23.9300
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: -0.8655
    Cell Significance Index: -14.5800
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: -0.9605
    Cell Significance Index: -11.4500
  • Cell Name: type I muscle cell (CL0002211)
    Fold Change: -1.0254
    Cell Significance Index: -25.0200
  • Cell Name: skeletal muscle myoblast (CL0000515)
    Fold Change: -1.0256
    Cell Significance Index: -11.1500
  • Cell Name: medium spiny neuron (CL1001474)
    Fold Change: -1.0701
    Cell Significance Index: -14.4400
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -1.1352
    Cell Significance Index: -33.4400
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -1.1898
    Cell Significance Index: -41.6800
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -1.1958
    Cell Significance Index: -25.3800

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** The SDHB gene is a mitochondrial gene that encodes for a protein essential for the functioning of the succinate dehydrogenase complex. The complex is a crucial component of the electron transport chain, responsible for the generation of ATP through aerobic respiration. SDHB is a iron-sulfur subunit, which means it contains iron and sulfur clusters that play a critical role in its function. The protein is highly conserved across species, suggesting its importance in cellular processes. **Pathways and Functions:** SDHB is involved in several key pathways, including: 1. **Electron Transport Chain:** SDHB is a critical component of the electron transport chain, which generates ATP through the transfer of electrons from succinate to ubiquinone. 2. **Aerobic Respiration:** SDHB is essential for aerobic respiration, the process by which cells generate energy in the presence of oxygen. 3. **Citric Acid Cycle (TCA Cycle):** SDHB is involved in the TCA cycle, also known as the Krebs cycle or tricarboxylic acid cycle, which is a key metabolic pathway that generates energy for cells. 4. **Mitochondrial Electron Transport Chain Complex II:** SDHB is a part of complex II, also known as succinate dehydrogenase complex (SDHC), which is a critical component of the electron transport chain. **Clinical Significance:** Mutations in the SDHB gene have been linked to various diseases, including: 1. **Mitochondrial Myopathies:** SDHB mutations can lead to mitochondrial myopathies, a group of disorders characterized by muscle weakness and fatigue. 2. **Cancer:** SDHB mutations have been found in various types of cancer, including colorectal, breast, and ovarian cancer. 3. **Neurodegenerative Disorders:** SDHB mutations have been linked to neurodegenerative disorders, including Parkinson's disease and Alzheimer's disease. In conclusion, the SDHB gene plays a critical role in mitochondrial function and disease. Its importance in the electron transport chain, aerobic respiration, and the citric acid cycle makes it a key player in cellular energy production. Mutations in the SDHB gene can lead to various diseases, highlighting the need for further research into its role in human health and disease. **Expert Immunologist's Note:** As an expert immunologist, I would like to highlight the importance of SDHB in the context of immune function. While SDHB is primarily known for its role in mitochondrial function, its involvement in the electron transport chain and aerobic respiration suggests a potential link to immune function. Further research is needed to explore the role of SDHB in immune regulation and its potential as a therapeutic target for immune-related disorders.

Genular Protein ID: 58464758

Symbol: SDHB_HUMAN

Name: Succinate dehydrogenase [ubiquinone] iron-sulfur subunit, mitochondrial

UniProtKB Accession Codes:

P21912 B2R545 Q0QEY7 Q9NQ12

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 BRENDA 1 Bgee 1 BindingDB 1 BioCyc 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 1 CDD 1 CPTC 1 CTD 1 ChEBI 27 ChEMBL 1 ChiTaRS 1 ComplexPortal 1 DIP 1 DMDM 1 DNASU 1 DisGeNET 1 DrugBank 2 EC 1 EMBL 16 EMDB 8 Ensembl 1 ExpressionAtlas 1 GO 20 Gene3D 2 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 10 KEGG 1 MANE-Select 1 MIM 7 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 NCBIfam 1 OMA 1 OpenTargets 1 Orphanet 6 OrthoDB 1 PANTHER 2 PDB 5 PDBsum 5 PIR 1 PRO 1 PROSITE 4 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 1 Pumba 1 RNAct 1 Reactome 3 RefSeq 1 Rhea 5 SIGNOR 1 SMR 1 STRING 1 SUPFAM 2 SignaLink 1 SwissPalm 1 TCDB 1 TreeFam 1 UCSC 1 UniPathway 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 7622059

Title: Structural organization of the gene encoding the human iron-sulfur subunit of succinate dehydrogenase.

PubMed ID: 7622059

DOI: 10.1016/0378-1119(95)00162-y

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 16710414

Title: The DNA sequence and biological annotation of human chromosome 1.

PubMed ID: 16710414

DOI: 10.1038/nature04727

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 16751257

Title: Housekeeping genes for phylogenetic analysis of eutherian relationships.

PubMed ID: 16751257

DOI: 10.1093/molbev/msl027

PubMed ID: 2302193

Title: Human complex II (succinate-ubiquinone oxidoreductase): cDNA cloning of iron sulfur (Ip) subunit of liver mitochondria.

PubMed ID: 2302193

DOI: 10.1016/0006-291x(90)91916-g

PubMed ID: 2494655

Title: Use of the DNA polymerase chain reaction for homology probing: isolation of partial cDNA or genomic clones encoding the iron-sulfur protein of succinate dehydrogenase from several species.

PubMed ID: 2494655

DOI: 10.1073/pnas.86.6.1934

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 25944712

Title: N-terminome analysis of the human mitochondrial proteome.

PubMed ID: 25944712

DOI: 10.1002/pmic.201400617

PubMed ID: 26749241

Title: Disease-causing SDHAF1 mutations impair transfer of Fe-S clusters to SDHB.

PubMed ID: 26749241

DOI: 10.1016/j.cmet.2015.12.005

PubMed ID: 33092197

Title: A Comprehensive Proteomics Analysis of the JC Virus (JCV) Large and Small Tumor Antigen Interacting Proteins: Large T Primarily Targets the Host Protein Complexes with V-ATPase and Ubiquitin Ligase Activities While Small t Mostly Associates with Those Having Phosphatase and Chromatin-Remodeling Functions.

PubMed ID: 33092197

DOI: 10.3390/v12101192

PubMed ID: 37098072

Title: Structure of the human respiratory complex II.

PubMed ID: 37098072

DOI: 10.1073/pnas.2216713120

PubMed ID: 11404820

Title: Gene mutations in the succinate dehydrogenase subunit SDHB cause susceptibility to familial pheochromocytoma and to familial paraganglioma.

PubMed ID: 11404820

DOI: 10.1086/321282

PubMed ID: 12213855

Title: Familial malignant catecholamine-secreting paraganglioma with prolonged survival associated with mutation in the succinate dehydrogenase B gene.

PubMed ID: 12213855

DOI: 10.1210/jc.2002-020312

PubMed ID: 11897817

Title: Prevalence of SDHB, SDHC, and SDHD germline mutations in clinic patients with head and neck paragangliomas.

PubMed ID: 11897817

DOI: 10.1136/jmg.39.3.178

PubMed ID: 12000816

Title: Germ-line mutations in nonsyndromic pheochromocytoma.

PubMed ID: 12000816

DOI: 10.1056/nejmoa020152

PubMed ID: 14500403

Title: Mutations in the SDHB gene are associated with extra-adrenal and/or malignant phaeochromocytomas.

PubMed ID: 14500403

PubMed ID: 14974914

Title: Genetic analysis of mitochondrial complex II subunits SDHD, SDHB and SDHC in paraganglioma and phaeochromocytoma susceptibility.

PubMed ID: 14974914

DOI: 10.1046/j.1365-2265.2003.01914.x

PubMed ID: 12618761

Title: Novel succinate dehydrogenase subunit B (SDHB) mutations in familial phaeochromocytomas and paragangliomas, but an absence of somatic SDHB mutations in sporadic phaeochromocytomas.

PubMed ID: 12618761

DOI: 10.1038/sj.onc.1206300

PubMed ID: 15473885

Title: K40E: a novel succinate dehydrogenase (SDH)B mutation causing familial phaeochromocytoma and paraganglioma.

PubMed ID: 15473885

DOI: 10.1111/j.1365-2265.2004.02122.x

PubMed ID: 15328326

Title: Distinct clinical features of paraganglioma syndromes associated with SDHB and SDHD gene mutations.

PubMed ID: 15328326

DOI: 10.1001/jama.292.8.943

PubMed ID: 14715873

Title: A novel succinate dehydrogenase subunit B gene mutation, H132P, causes familial malignant sympathetic extraadrenal paragangliomas.

PubMed ID: 14715873

DOI: 10.1210/jc.2003-031236

PubMed ID: 17634472

Title: Somatic SDHB mutation in an extraadrenal pheochromocytoma.

PubMed ID: 17634472

DOI: 10.1056/nejmc070010

PubMed ID: 17804857

Title: Familial gastrointestinal stromal tumors and germ-line mutations.

PubMed ID: 17804857

DOI: 10.1056/nejmc071191

PubMed ID: 18678321

Title: Germline mutations and variants in the succinate dehydrogenase genes in Cowden and Cowden-like syndromes.

PubMed ID: 18678321

DOI: 10.1016/j.ajhg.2008.07.011

PubMed ID: 22972948

Title: Recessive germline SDHA and SDHB mutations causing leukodystrophy and isolated mitochondrial complex II deficiency.

PubMed ID: 22972948

DOI: 10.1136/jmedgenet-2012-101146

PubMed ID: 26925370

Title: Mitochondrial leukoencephalopathy and complex II deficiency associated with a recessive SDHB mutation with reduced penetrance.

PubMed ID: 26925370

DOI: 10.1016/j.ymgmr.2015.10.006

PubMed ID: 26642834

Title: Magnetic resonance imaging spectrum of succinate dehydrogenase-related infantile leukoencephalopathy.

PubMed ID: 26642834

DOI: 10.1002/ana.24572

PubMed ID: 27604842

Title: Leukoencephalopathy due to Complex II Deficiency and Bi-Allelic SDHB Mutations: Further Cases and Implications for Genetic Counselling.

PubMed ID: 27604842

DOI: 10.1007/8904_2016_582

PubMed ID: 32124427

Title: Novel variant p.(Ala102Thr) in SDHB causes mitochondrial complex II deficiency: Case report and review of the literature.

PubMed ID: 32124427

DOI: 10.1111/ahg.12377

Sequence Information:

  • Length: 280
  • Mass: 31630
  • Checksum: ED12E7C3BA7B6D13
  • Sequence:
    • MAAVVALSLR RRLPATTLGG ACLQASRGAQ TAAATAPRIK KFAIYRWDPD KAGDKPHMQT 
YEVDLNKCGP MVLDALIKIK NEVDSTLTFR RSCREGICGS CAMNINGGNT LACTRRIDTN 
LNKVSKIYPL PHMYVIKDLV PDLSNFYAQY KSIEPYLKKK DESQEGKQQY LQSIEEREKL 
DGLYECILCA CCSTSCPSYW WNGDKYLGPA VLMQAYRWMI DSRDDFTEER LAKLQDPFSL 
YRCHTIMNCT RTCPKGLNPG KAIAEIKKMM ATYKEKKASV

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.