SDHA - succinate dehydrogenase complex flavoprotein subunit A Gene
Also Known as FP; PGL5; SDH1; SDH2; SDHF; CMD1GG; MC2DN1; NDAXOA
Species: Homo sapiens
About SDHA
This gene has 19 transcripts (splice variants), 226 orthologues and is associated with 99 phenotypes. Ubiquitous expression in heart (RPKM 63.7), kidney (RPKM 34.3) and 24 other tissues.
Summary
This gene encodes a major catalytic subunit of succinate-ubiquinone oxidoreductase, a complex of the mitochondrial respiratory chain. The complex is composed of four nuclear-encoded subunits and is localized in the mitochondrial inner membrane. Mutations in this gene have been associated with a form of mitochondrial respiratory chain deficiency known as Leigh Syndrome. A pseudogene has been identified on chromosome 3q29. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2014]
SDHA Products (3)
| mRNA | Protein | Name |
|---|---|---|
| NM_001294332.2 | NP_001281261.1 | succinate dehydrogenase [ubiquinone] flavoprotein subunit, mitochondrial isoform 2 |
| NM_001330758.2 | NP_001317687.1 | succinate dehydrogenase [ubiquinone] flavoprotein subunit, mitochondrial isoform 3 |
| NM_004168.4 | NP_004159.2 | succinate dehydrogenase [ubiquinone] flavoprotein subunit, mitochondrial isoform 1 |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
15961414 | GOA |
| contributes to succinate dehydrogenase (quinone) activity |
IMP
IMP: Inferred from mutant phenotype
|
7550341 | GOA |
| enables succinate dehydrogenase (quinone) activity |
IMP
IMP: Inferred from mutant phenotype
|
24781757 | GOA |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in nervous system development |
IMP
IMP: Inferred from mutant phenotype
|
16361598 | GOA |
| involved in respiratory electron transport chain |
IDA
IDA: Inferred from direct assay
|
7550341 | GOA |
| involved in succinate metabolic process |
IDA
IDA: Inferred from direct assay
|
7550341 | GOA |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in mitochondrion |
IDA
IDA: Inferred from direct assay
|
7550341 | GOA |
| part of respiratory chain complex II (succinate dehydrogenase) |
IDA
IDA: Inferred from direct assay
|
37098072 | GOA |
SDHA Protein Structure
FAD_binding_2: FAD binding domain (63 - 457)
Succ_DH_flav_C: Fumarate reductase flavoprotein C-term (512 - 664)
- 0
- 200
- 400
- 600
- 664 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
succinate dehydrogenase [ubiquinone] flavoprotein subunit, mitochondrial |
|
SDHA Protein-protein interaction Information
|
Type
|
Protein Name | Protein ID | Interactor | Interactor Species | Interactor ID | Detection Method | References |
|---|---|---|---|---|---|---|---|
|
Intra
|
SDHA | P31040 | SDHB | Homo sapiens | P21912 | 19688755 | |
|
Intra
|
SDHA | P31040 | SDHB | Homo sapiens | P21912 | 33961781 | |
|
Intra
|
SDHA | P31040 | SDHB | Homo sapiens | P21912 | 28514442 | |
|
Intra
|
SDHA | P31040 | CFTR | Homo sapiens | P13569 | 35156780 | |
|
Intra
|
SDHA | P31040 | SDHAF2 | Homo sapiens | Q9NX18 | 33961781 | |
|
Intra
|
SDHA | P31040 | SDHAF2 | Homo sapiens | Q9NX18 | 28514442 |
SDHA Antibodies
| Cat. No. | Product Name | Application | Reactivity |
|---|---|---|---|
| HY-P80318 | SDHA Antibody (YA083) | WB, ICC/IF, IHC-P, FC | Human, Mouse, Rat, Zebrafish |
| HY-P84251 | SDHA Antibody (YA3948) | WB, ICC/IF, FC, ELISA | Human, Mouse |
| HY-P84251A | SDHA Antibody (YA3948)(PBS only) | WB, ICC/IF, FC, ELISA | Human, Mouse |
| HY-P86640 | SDHA Antibody (YA6332) | WB, IHC-P, ICC/IF, IP, ELISA | Human, Mouse, Rat |
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Cardiomyopathy, Dilated, 1gg |
|
|
| Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
|
| Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
|
| Paragangliomas 5 |
|
|
| Leigh Syndrome |
|
|
| Mitochondrial Complex Ii Deficiency |
|
|
| Polymyoclonus, Infantile |
|
|
| Gastrointestinal Stromal Tumor |
|
|
| Otitis Media |
|
|
| Paraganglioma |
|
|
| Pilocytic Astrocytoma |
|
|
| Paragangliomas 1 |
|
|
| Pheochromocytoma |
|
|
| Rhabdomyosarcoma |
|
|
| Hereditary Paraganglioma-Pheochromocytoma Syndromes |
|
|
| Leigh Syndrome With Leukodystrophy |
|
|
| Bap1 Tumor Predisposition Syndrome |
|
|
| Inherited Cancer-Predisposing Syndrome |
|
|
| Familial Isolated Dilated Cardiomyopathy |
|
|
| Carney Triad |
|
|
| Graves Ophthalmopathy |
|
|
| Neural Crest Tumor |
|
|
| Hyperthyroidism |
|
|
| Barth Syndrome |
|
|
| Kearns-Sayre Syndrome |
|
|
| Persistent Generalized Lymphadenopathy |
|
|
| Paraganglioma And Gastric Stromal Sarcoma |
|
|
| Leukodystrophy |
|
|
| Extra-Adrenal Pheochromocytoma |
|
|
| Chondroma |
|
|
| Gastric Leiomyosarcoma |
|
|
| Lymph Node Disease |
|
|
| Fumarase Deficiency |
|
|
| Hashimoto Thyroiditis |
|
|
| Leiomyoma Cutis |
|
|
| Dermis Tumor |
|
|
| Foster-Kennedy Syndrome |
|
|
| Spastic Quadriplegia |
|
|
| Scrotum Melanoma |
|
|
| Malignant Pheochromocytoma |
|
|
| Adrenal Medulla Cancer |
|
|
| Endocrine Organ Benign Neoplasm |
|
|
| Multiple Endocrine Neoplasia, Type Iia |
|
|
| Myopathy |
|
|
| Quadriplegia |
|
|
| Eye Disease |
|
|
| Cataract 38 |
|
|
| Mitochondrial Metabolism Disease |
|
|
| Infantile Cerebellar-Retinal Degeneration |
|
|
| Cardiomyopathy, Dilated, 1c, With Or Without Left Ventricular Noncompaction |
|
|
| 3-Methylglutaconic Aciduria, Type Iii |
|
|
| Complex Partial Epilepsy |
|
|
| Von Hippel-Lindau Syndrome |
|
|
| Spastic Paraplegia 38, Autosomal Dominant |
|
|
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 3 |
|
|
| Gastric Liposarcoma |
|
|
| Cerebral Angioma |
|
|
| Dystonia |
|
|
| Neurofibromatosis, Type I |
|
|
| Mitochondrial Myopathy |
|
|
| Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
|
| Cowden Syndrome |
|
|
| Leber Hereditary Optic Neuropathy, Modifier Of |
|
|
Orthologs Information
| Species | Symbol | Source | ID |
|---|---|---|---|
| Rattus norvegicus | SDHA | RGD | RGD:621557 |
| Canis familiaris | SDHA | VGNC | VGNC:45949 |
| Macaca mulatta | SDHA | VGNC | VGNC:84490 |
| Bos taurus | SDHA | VGNC | VGNC:34388 |
| Felis catus | SDHA | VGNC | VGNC:102313 |
| Mus musculus | SDHA | MGD | MGI:1914195 |
| Others | SDHA | NCBI |