SDHB is one of four protein subunits forming succinate dehydrogenase, the other three being SDHA, SDHC and SDHD. 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.

2025年1月28日 · Our mission is to educate healthcare professionals and patients on the SDHB genetic germline mutation as well as its role and impact in this orphan disease, namely Pheochromocytoma and Paraganglioma. Please explore this site further to find out more about these devastating diseases…

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.

Research into the SDHB gene has revealed several important findings: Essential Functions: The SDHB gene encodes for a subunit of the enzyme succinate dehydrogenase, crucial for the Krebs cycle and the electron transport chain.

2008年5月21日 · Evaluation of relatives at risk: First-degree relatives of an individual with a hereditary PGL/PCC syndrome and a known MAX, SDHA, SDHAF2, SDHB, SDHC, SDHD, or TMEM127 pathogenic variant should be offered molecular genetic testing to clarify their genetic status to improve diagnostic certainty and reduce the need for costly screening procedures ...

2024年12月11日 · What is my cancer risk if I have an SDHB mutation? If you have a mutation in the SDHB gene, this means you have a condition called hereditary paraganglioma-pheochromocytoma (PGL/PCC) syndrome.

2024年12月25日 · This tumor suppressor gene encodes the iron-sulfur protein subunit of the succinate dehydrogenase (SDH) enzyme complex which plays a critical role in mitochondria. The SDH enzyme complex is composed of four nuclear-encoded subunits.

Pheochromocytoma can be a solitary disease affecting only the adrenal gland, and in other situations they can develop alongside paraganglioma in some genetic mutations, such as those of the following genes: SHDA, SDHB, SDHC, SDHD.

Mutations in the SDHx genes (SDHA, SDHB, SDHC and SDHD), which encode the four subunits of the mitochondrial enzyme succinate dehydrogenase (SDH), are associated with a predisposition for developing hereditary phaeochromocytoma and/or paraganglioma (PPGL) 1.

Pheochromocytoma can be a solitary disease affecting only the adrenal gland, and in other situations they can develop alongside paraganglioma in some genetic mutations, such as those of the following genes: SHDA, SDHB, SDHC, SDHD.