Details for: SDHD

Gene ID: 6392

Symbol: SDHD

Ensembl ID: ENSG00000204370

Description: succinate dehydrogenase complex subunit D

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: 215.2429
    Cell Significance Index: -33.4800
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 123.3425
    Cell Significance Index: -31.2900
  • Cell Name: embryonic stem cell (CL0002322)
    Fold Change: 106.1543
    Cell Significance Index: -43.7300
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 99.8136
    Cell Significance Index: -40.5500
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 94.0857
    Cell Significance Index: -44.4200
  • Cell Name: peripheral blood mononuclear cell (CL2000001)
    Fold Change: 85.4807
    Cell Significance Index: -43.9700
  • Cell Name: ileal goblet cell (CL1000326)
    Fold Change: 66.5850
    Cell Significance Index: -44.6800
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 32.2153
    Cell Significance Index: -39.7200
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 10.5976
    Cell Significance Index: -32.5500
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 10.4662
    Cell Significance Index: -41.3000
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 9.0412
    Cell Significance Index: -24.2200
  • Cell Name: thyroid follicular cell (CL0002258)
    Fold Change: 8.0759
    Cell Significance Index: 85.8100
  • Cell Name: microcirculation associated smooth muscle cell (CL0008035)
    Fold Change: 7.0811
    Cell Significance Index: 59.4800
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 2.4652
    Cell Significance Index: 67.1000
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 1.8560
    Cell Significance Index: 128.3500
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: 1.8114
    Cell Significance Index: 128.1100
  • Cell Name: kidney cell (CL1000497)
    Fold Change: 1.6357
    Cell Significance Index: 13.0600
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 1.6149
    Cell Significance Index: 221.7700
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 1.3576
    Cell Significance Index: 600.2200
  • Cell Name: theca cell (CL0000503)
    Fold Change: 1.2374
    Cell Significance Index: 7.2700
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 1.2078
    Cell Significance Index: 217.7200
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 1.1963
    Cell Significance Index: 1080.2000
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 1.1458
    Cell Significance Index: 140.8900
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 1.0232
    Cell Significance Index: 131.1700
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.9997
    Cell Significance Index: 51.9300
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: 0.9631
    Cell Significance Index: 28.2900
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.8208
    Cell Significance Index: 448.2400
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: 0.8032
    Cell Significance Index: 37.7500
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: 0.7779
    Cell Significance Index: 22.3000
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: 0.7667
    Cell Significance Index: 7.0600
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.7110
    Cell Significance Index: 33.1500
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: 0.6636
    Cell Significance Index: 17.4500
  • Cell Name: endothelial cell of venule (CL1000414)
    Fold Change: 0.5867
    Cell Significance Index: 6.6700
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 0.5809
    Cell Significance Index: 68.5000
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: 0.5585
    Cell Significance Index: 11.6900
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: 0.5460
    Cell Significance Index: 18.9800
  • Cell Name: paneth cell of colon (CL0009009)
    Fold Change: 0.4785
    Cell Significance Index: 7.1700
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 0.4483
    Cell Significance Index: 33.4100
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 0.4361
    Cell Significance Index: 28.1400
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: 0.4017
    Cell Significance Index: 20.3000
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.3777
    Cell Significance Index: 75.7600
  • Cell Name: skeletal muscle myoblast (CL0000515)
    Fold Change: 0.3762
    Cell Significance Index: 4.0900
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 0.3641
    Cell Significance Index: 47.0500
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.3497
    Cell Significance Index: 125.4500
  • Cell Name: hepatoblast (CL0005026)
    Fold Change: 0.3334
    Cell Significance Index: 5.6100
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.3198
    Cell Significance Index: 60.8600
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.3016
    Cell Significance Index: 13.6700
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 0.2517
    Cell Significance Index: 8.0600
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.2256
    Cell Significance Index: 14.2200
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.2187
    Cell Significance Index: 37.3400
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.2124
    Cell Significance Index: 21.0100
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: 0.1867
    Cell Significance Index: 3.4500
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.1132
    Cell Significance Index: 8.6900
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: 0.0918
    Cell Significance Index: 67.2800
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: 0.0687
    Cell Significance Index: 1.1500
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: 0.0277
    Cell Significance Index: 20.9400
  • Cell Name: vascular lymphangioblast (CL0005022)
    Fold Change: 0.0269
    Cell Significance Index: 0.4800
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.0245
    Cell Significance Index: 0.8600
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.0116
    Cell Significance Index: -0.3100
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0176
    Cell Significance Index: -11.0200
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0202
    Cell Significance Index: -14.9500
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.0223
    Cell Significance Index: -41.9200
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: -0.0263
    Cell Significance Index: -18.1800
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0279
    Cell Significance Index: -51.4800
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0300
    Cell Significance Index: -3.0600
  • Cell Name: interstitial cell of ovary (CL0002094)
    Fold Change: -0.0316
    Cell Significance Index: -0.4100
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0333
    Cell Significance Index: -51.3400
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0381
    Cell Significance Index: -51.7700
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0452
    Cell Significance Index: -25.4800
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.0516
    Cell Significance Index: -4.0900
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0568
    Cell Significance Index: -6.5100
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0666
    Cell Significance Index: -42.2900
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0987
    Cell Significance Index: -44.7800
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.1070
    Cell Significance Index: -22.5300
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.1221
    Cell Significance Index: -3.2700
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: -0.1477
    Cell Significance Index: -16.8600
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.1515
    Cell Significance Index: -43.6100
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -0.1788
    Cell Significance Index: -4.4700
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.1935
    Cell Significance Index: -4.1200
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.1962
    Cell Significance Index: -22.8600
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: -0.2007
    Cell Significance Index: -39.8200
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: -0.2061
    Cell Significance Index: -4.4700
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.2261
    Cell Significance Index: -11.8700
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: -0.2749
    Cell Significance Index: -3.7500
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.2987
    Cell Significance Index: -43.4200
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: -0.3164
    Cell Significance Index: -3.2800
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.3259
    Cell Significance Index: -18.2900
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -0.3554
    Cell Significance Index: -9.0800
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.3571
    Cell Significance Index: -21.9500
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.4105
    Cell Significance Index: -42.7400
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.5385
    Cell Significance Index: -23.8200
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.6128
    Cell Significance Index: -18.0500
  • Cell Name: columnar/cuboidal epithelial cell (CL0000075)
    Fold Change: -0.6333
    Cell Significance Index: -2.4300
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.6480
    Cell Significance Index: -43.5800
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.6528
    Cell Significance Index: -24.7200
  • Cell Name: perivascular cell (CL4033054)
    Fold Change: -0.6768
    Cell Significance Index: -3.1300
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.7229
    Cell Significance Index: -44.3200
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.7477
    Cell Significance Index: -38.9500
  • Cell Name: neuron associated cell (CL0000095)
    Fold Change: -0.7518
    Cell Significance Index: -30.8100
  • Cell Name: enterocyte (CL0000584)
    Fold Change: -0.8672
    Cell Significance Index: -5.3800

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:** 1. **Location and Expression:** The SDHD gene is located on chromosome 5q35 and is highly expressed in various cell types, including myeloid dendritic cells, extravillous trophoblasts, and skeletal muscle satellite cells. 2. **Protein Structure:** The SDHD protein is a subunit of the succinate dehydrogenase complex, a mitochondrial enzyme responsible for converting succinate to ubiquinone, generating electrons for the electron transport chain. 3. **Function:** The SDHD protein is essential for maintaining the proton motive force-driven mitochondrial ATP synthesis, regulating cellular metabolism, and responding to hypoxic conditions. 4. **Regulation:** The SDHD gene is regulated by various factors, including hypoxia-inducible factors (HIFs) and the citric acid cycle. **Pathways and Functions:** 1. **Citric Acid Cycle (TCA Cycle):** The SDHD gene is involved in the TCA cycle, where it plays a critical role in converting succinate to ubiquinone, generating electrons for the electron transport chain. 2. **Electron Transfer Activity:** The SDHD protein is a subunit of the succinate dehydrogenase complex, which is responsible for transferring electrons from succinate to ubiquinone. 3. **Heme Binding:** The SDHD protein has a heme binding site, which is essential for the proper functioning of the succinate dehydrogenase complex. 4. **Metabolism:** The SDHD gene is involved in regulating cellular metabolism, particularly in the context of hypoxia and energy homeostasis. 5. **Mitochondrial Electron Transport:** The SDHD protein plays a critical role in the mitochondrial electron transport chain, where it generates electrons for ATP synthesis. **Clinical Significance:** 1. **Mitochondrial Myopathies:** Mutations in the SDHD gene have been linked to various mitochondrial myopathies, including MERRF (myoclonic epilepsy with ragged-red fibers) and MELAS (mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes). 2. **Neurodegenerative Disorders:** SDHD mutations have also been associated with neurodegenerative disorders, including Alzheimer's disease, Parkinson's disease, and Huntington's disease. 3. **Cancer:** The SDHD gene has been implicated in the development of various cancers, including breast cancer, ovarian cancer, and colorectal cancer. 4. **Hypoxic Conditions:** The SDHD gene plays a critical role in responding to hypoxic conditions, where it regulates cellular metabolism and energy homeostasis. In conclusion, the SDHD gene is a critical component of the mitochondrial respiratory chain, playing a vital role in maintaining energy homeostasis, regulating cellular metabolism, and responding to hypoxic conditions. Mutations in the SDHD gene have been linked to various diseases, including mitochondrial myopathies, neurodegenerative disorders, and cancer. Further research is necessary to fully understand the mechanisms by which the SDHD gene regulates cellular function and to develop effective therapeutic strategies for the treatment of related diseases.

Genular Protein ID: 199115780

Symbol: DHSD_HUMAN

Name: Succinate dehydrogenase [ubiquinone] cytochrome b small subunit, mitochondrial

UniProtKB Accession Codes:

O14521 A6ND90 B3KQQ8 E9PIC0 E9PIG3 E9PQI9 Q53XW5 Q6IRW2

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioCyc 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 4 CDD 1 CTD 1 ChEBI 3 ChiTaRS 1 ComplexPortal 1 DNASU 1 DisGeNET 1 DrugBank 3 EMBL 16 EMDB 1 Ensembl 4 ExpressionAtlas 1 GO 15 Gene3D 1 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 2 KEGG 1 MANE-Select 1 MIM 7 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 6 OrthoDB 1 PANTHER 2 PDB 1 PDBsum 1 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 3 Pumba 1 RNAct 1 Reactome 3 RefSeq 4 SIGNOR 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 SwissPalm 1 TCDB 1 TopDownProteomics 1 TreeFam 1 UCSC 1 UniPathway 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 9533030

Title: Cytochrome b in human complex II (succinate-ubiquinone oxidoreductase): cDNA cloning of the components in liver mitochondria and chromosome assignment of the genes for the large (SDHC) and small (SDHD) subunits to 1q21 and 11q23.

PubMed ID: 9533030

DOI: 10.1159/000134700

PubMed ID: 10482792

Title: Characterization of the human SDHD gene encoding the small subunit of cytochrome b (cybS) in mitochondrial succinate-ubiquinone oxidoreductase.

PubMed ID: 10482792

DOI: 10.1016/s0005-2728(99)00071-7

PubMed ID: 16303743

Title: Signal sequence and keyword trap in silico for selection of full-length human cDNAs encoding secretion or membrane proteins from oligo-capped cDNA libraries.

PubMed ID: 16303743

DOI: 10.1093/dnares/12.2.117

PubMed ID: 16554811

Title: Human chromosome 11 DNA sequence and analysis including novel gene identification.

PubMed ID: 16554811

DOI: 10.1038/nature04632

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: 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: 37098072

Title: Structure of the human respiratory complex II.

PubMed ID: 37098072

DOI: 10.1073/pnas.2216713120

PubMed ID: 11156372

Title: Somatic and occult germ-line mutations in SDHD, a mitochondrial complex II gene, in nonfamilial pheochromocytoma.

PubMed ID: 11156372

PubMed ID: 10657297

Title: Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma.

PubMed ID: 10657297

DOI: 10.1126/science.287.5454.848

PubMed ID: 11343322

Title: Novel mutations and the emergence of a common mutation in the SDHD gene causing familial paraganglioma.

PubMed ID: 11343322

DOI: 10.1002/ajmg.1270

PubMed ID: 11391796

Title: Novel mutations in the SDHD gene in pedigrees with familial carotid body paraganglioma and sensorineural hearing loss.

PubMed ID: 11391796

DOI: 10.1002/gcc.1142

PubMed ID: 11391798

Title: Nearly all hereditary paragangliomas in the Netherlands are caused by two founder mutations in the SDHD gene.

PubMed ID: 11391798

DOI: 10.1002/gcc.1144

PubMed ID: 11526495

Title: Germline SDHD mutation in paraganglioma of the spinal cord.

PubMed ID: 11526495

DOI: 10.1038/sj.onc.1204579

PubMed ID: 12007193

Title: Alterations of the SDHD gene locus in midgut carcinoids, Merkel cell carcinomas, pheochromocytomas, and abdominal paragangliomas.

PubMed ID: 12007193

DOI: 10.1002/gcc.10081

PubMed ID: 14500403

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

PubMed ID: 14500403

PubMed ID: 12000816

Title: Germ-line mutations in nonsyndromic pheochromocytoma.

PubMed ID: 12000816

DOI: 10.1056/nejmoa020152

PubMed ID: 12696072

Title: G12S and H50R variations are polymorphisms in the SDHD gene.

PubMed ID: 12696072

DOI: 10.1002/gcc.10212

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: 15032977

Title: SDHD mutation analysis in seven German patients with sporadic carotid body paraganglioma: one novel mutation, no Dutch founder mutation and further evidence that G12S is a polymorphism.

PubMed ID: 15032977

DOI: 10.1111/j..2004.00174.x

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: 18987736

Title: DNA sequencing of a cytogenetically normal acute myeloid leukaemia genome.

PubMed ID: 18987736

DOI: 10.1038/nature07485

PubMed ID: 24367056

Title: Mutations in SDHD lead to autosomal recessive encephalomyopathy and isolated mitochondrial complex II deficiency.

PubMed ID: 24367056

DOI: 10.1136/jmedgenet-2013-101932

PubMed ID: 26008905

Title: A recessive homozygous p.Asp92Gly SDHD mutation causes prenatal cardiomyopathy and a severe mitochondrial complex II deficiency.

PubMed ID: 26008905

DOI: 10.1007/s00439-015-1568-z

Sequence Information:

  • Length: 159
  • Mass: 17043
  • Checksum: 6B1AA94831C8C3B6
  • Sequence:
    • MAVLWRLSAV CGALGGRALL LRTPVVRPAH ISAFLQDRPI PEWCGVQHIH LSPSHHSGSK 
AASLHWTSER VVSVLLLGLL PAAYLNPCSA MDYSLAAALT LHGHWGLGQV VTDYVHGDAL 
QKAAKAGLLA LSALTFAGLC YFNYHDVGIC KAVAMLWKL

Genular Protein ID: 4206575651

Symbol: A0A0S2Z4H7_HUMAN

Name: N/A

UniProtKB Accession Codes:

A0A0S2Z4H7

Database IDs:

AlphaFoldDB 1 Antibodypedia 1 BioGRID-ORCS 1 CTD 1 ChiTaRS 1 DNASU 1 DisGeNET 1 EMBL 2 ExpressionAtlas 1 NCBI Taxonomy 1 OrthoDB 1 RefSeq 1 SAM 1 VEuPathDB 1

Citations:

PubMed ID: 26871637

Title: Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing.

PubMed ID: 26871637

DOI: 10.1016/j.cell.2016.01.029

Sequence Information:

  • Length: 85
  • Mass: 9720
  • Checksum: 590AF9A98DD8AE76
  • Sequence:
    • MAVLWRLSAV CGALGGRALL LRTPVVRPAH ISAFLQDRPI PEWCGVQHIH LSPSHHWALD 
KLLLTMFMGM PCRKLPRQGF WHFQL

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.