What is Gene SDHB?
The SDHB gene provides instructions for making one of four subunits of the succinate dehydrogenase (SDH) enzyme. The SDH enzyme plays a critical role in mitochondria, which are structures inside cells that convert the energy from food into a form that cells can use.
What kind of protein is succinate dehydrogenase?
Succinate dehydrogenase (SDH) also known as complex II or succinate:quinone oxidoreductase is an enzyme involved in both oxidative phosphorylation and tricarboxylic acid cycle; the processes that generate energy. SDH is a multi-subunit enzyme which requires a series of proteins for its proper assembly at several steps.
How rare is SDHB gene mutation?
There is a 50/50 random chance to pass on a SDHB mutation to your sons and daughters.
What chromosome is SDHB on?
The gene that codes for the SDHB protein is nuclear, not mitochondrial DNA. However, the expressed protein is located in the inner membrane of the mitochondria. The location of the gene in humans is on the first chromosome at locus p36.
How common is SDHB mutation?
Probable deleterious SDHB variants were also detected in 5 (45%) of 11 paragangliomas without known metastatic disease (1 splice site, 1 deletion causing a frameshift, and 3 missense changes).
What is SDHA mutation?
Specifically, SDHA gene mutations are associated with nonsyndromic paraganglioma or pheochromocytoma, which means the tumors are not part of an inherited syndrome. A single mutation in the SDHA gene increases the risk that an individual will develop a paraganglioma.
What is the function of succinate dehydrogenase?
The succinate dehydrogenase catalyses the oxidation of succinate into fumarate in the Krebs cycle (1), derived electrons being fed to the respiratory chain complex III to reduce oxygen and form water (2).
What is succinate used for?
Overview. Succinate or succinic acid is involved in several chemical processes in the body. In supplements, it is used for symptoms related to menopause such as hot flashes and irritability. Succinate is also applied to the skin for arthritis and joint pain.
What are the symptoms of paraganglioma?
Signs and symptoms of pheochromocytoma and paraganglioma include high blood pressure and headache.
- High blood pressure.
- Headache.
- Heavy sweating for no known reason.
- A strong, fast, or irregular heartbeat.
- Being shaky.
- Being extremely pale.
Is SMAD4 a tumor suppressor?
SMAD4 (DPC4) is a tumor suppressor gene. It is located at chromosome 18q21. 1 and a member of the SMAD family. Which mediates the TGF-β signaling pathway, thereby controlling the growth of epithelial cells.
What does SDHA stand for?
succinate dehydrogenase complex flavoprotein subunit A.
Is SDHA a housekeeping gene?
Q-RT-PCR cycle threshold values for 7 candidate housekeeping genes among 31 adult human reticulocyte samples. Candidate housekeeping genes include AHSP, B2M, GAPDH, HBS1L, HPRT1 and SDHA.
What is the function of the SDHB protein?
Figure 1: Function of the SDHB protein. Electrons are transferred from the Citric Acid Cycle to the Respiratory Chain. Electron path is shown by red arrows.
How many amino acids are in SDHB?
The expressed protein weighs 31.6 kDa and is composed of 280 amino acids. SDHB contains the iron-sulphur clusters necessary for tunneling electrons through the complex.
Where is the SDHB subunit located in the mitochondria?
The SDHB subunit is connected to the SDHA subunit on the hydrophilic, catalytic end of the SDH complex. It is also connected to the SDHC/SDHD subunits on the hydrophobic end of the complex anchored in the mitochondrial membrane. The subunit is an iron-sulfur protein with three iron-sulfur clusters.
What is the location of the SDHB gene in humans?
The location of the gene in humans is on the first chromosome at locus p36.1-p35. The gene is coded in 1,162 base pairs, partitioned in 8 exons. The expressed protein weighs 31.6 kDa and is composed of 280 amino acids. SDHB contains the iron-sulphur clusters necessary for tunneling electrons through the complex.