SDHC - succinate dehydrogenase complex subunit C Gene
Also Known as CYBL; PGL3; QPS1; SDH3; CYB560
Species: Homo sapiens
About SDHC
This gene has 8 transcripts (splice variants), 218 orthologues and is associated with 68 phenotypes. Ubiquitous expression in kidney (RPKM 80.5), liver (RPKM 66.7) and 25 other tissues.
Summary
This gene encodes one of four nuclear-encoded subunits that comprise Succinate Dehydrogenase, also known as mitochondrial complex II, a key enzyme complex of the tricarboxylic acid cycle and aerobic respiratory chains of mitochondria. The encoded protein is one of two integral membrane proteins that anchor Other subunits of the complex, which form the catalytic core, to the inner mitochondrial membrane. There are several related pseudogenes for this gene on different chromosomes. Mutations in this gene have been associated with paragangliomas. Alternatively spliced transcript variants have been described. [provided by RefSeq, May 2013]
SDHC Products (12)
| mRNA | Protein | Name |
|---|---|---|
| NM_001035511.3 | NP_001030588.1 | succinate dehydrogenase cytochrome b560 subunit, mitochondrial isoform 2 precursor |
| NM_001035512.3 | NP_001030589.1 | succinate dehydrogenase cytochrome b560 subunit, mitochondrial isoform 3 precursor |
| NM_001035513.3 | NP_001030590.1 | succinate dehydrogenase cytochrome b560 subunit, mitochondrial isoform 4 precursor |
| NM_001278172.3 | NP_001265101.1 | succinate dehydrogenase cytochrome b560 subunit, mitochondrial isoform 5 precursor |
| NM_001407115.1 | NP_001394044.1 | succinate dehydrogenase cytochrome b560 subunit, mitochondrial isoform 6 precursor |
| NM_001407116.1 | NP_001394045.1 | succinate dehydrogenase cytochrome b560 subunit, mitochondrial isoform 7 precursor |
| NM_001407117.1 | NP_001394046.1 | succinate dehydrogenase cytochrome b560 subunit, mitochondrial isoform 8 precursor |
| NM_001407118.1 | NP_001394047.1 | succinate dehydrogenase cytochrome b560 subunit, mitochondrial isoform 9 precursor |
| NM_001407119.1 | NP_001394048.1 | succinate dehydrogenase cytochrome b560 subunit, mitochondrial isoform 10 |
| NM_001407120.1 | NP_001394049.1 | succinate dehydrogenase cytochrome b560 subunit, mitochondrial isoform 10 |
| NM_001407121.1 | NP_001394050.1 | succinate dehydrogenase cytochrome b560 subunit, mitochondrial isoform 11 precursor |
| NM_003001.5 | NP_002992.1 | succinate dehydrogenase cytochrome b560 subunit, mitochondrial isoform 1 precursor |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
32814053 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| part of respiratory chain complex II (succinate dehydrogenase) |
IDA
IDA: Inferred from direct assay
|
37098072 | GOA |
SDHC Protein Structure
Sdh_cyt: Succinate dehydrogenase/Fumarate reductase transmembrane subunit (48 - 164)
- 0
- 100
- 169 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
succinate dehydrogenase cytochrome b560 subunit, mitochondrial |
|
SDHC Antibodies
| Cat. No. | Product Name | Application | Reactivity |
|---|---|---|---|
| HY-P87067 | SDHC Antibody(YA6760) | WB, IHC-P | Human, Mouse, Rat |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Paragangliomas 3 |
|
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| Paraganglioma And Gastric Stromal Sarcoma |
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| Gastrointestinal Stromal Tumor |
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| Hereditary Paraganglioma-Pheochromocytoma Syndromes |
|
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| Cowden Syndrome |
|
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| Inherited Cancer-Predisposing Syndrome |
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| Bap1 Tumor Predisposition Syndrome |
|
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| Carney Triad |
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| Paraganglioma |
|
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| Multiple Endocrine Neoplasia |
|
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| Von Hippel-Lindau Syndrome |
|
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| Chondroma |
|
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| Pheochromocytoma |
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| Rhabdomyosarcoma |
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| Paragangliomas 1 |
|
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| Neural Crest Tumor |
|
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| Neurofibromatosis, Type I |
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| Multiple Endocrine Neoplasia, Type Iia |
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| Persistent Generalized Lymphadenopathy |
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| Extra-Adrenal Pheochromocytoma |
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| Malignant Pheochromocytoma |
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| Adrenal Medulla Cancer |
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| Multiple Endocrine Neoplasia, Type I |
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| Adrenal Cortical Adenoma |
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| Gastric Leiomyosarcoma |
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| Lymph Node Disease |
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| Endocrine Organ Benign Neoplasm |
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| Mitochondrial Complex Ii Deficiency |
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| Cowden Syndrome 4 |
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| Cerebral Angioma |
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| Combined Oxidative Phosphorylation Deficiency 5 |
|
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| Renal Cell Carcinoma, Nonpapillary |
|
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| Corneal Dystrophy, Posterior Polymorphous, 4 |
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| Retinitis Pigmentosa 11 |
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| Dicrocoeliasis |
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| Charcot-Marie-Tooth Disease, Axonal, Type 2dd |
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| Leigh Syndrome |
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| Retinitis Pigmentosa |
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| Nervous System Disease |
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Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Bos taurus | SDHC | VGNC | VGNC:34392 |
| Macaca mulatta | SDHC | VGNC | VGNC:77147 |
| Rattus norvegicus | SDHC | RGD | RGD:1359454 |
| Mus musculus | SDHC | MGD | MGI:1913302 |
| Canis familiaris | SDHC | VGNC | VGNC:45952 |
| Felis catus | SDHC | VGNC | VGNC:64953 |
| Others | SDHC | NCBI |