Succinate dehydrogenase [ubiquinone] cytochrome b small subunit, mitochondrial (CybS), also known as succinate dehydrogenase complex subunit D (SDHD), is a protein that in humans is encoded by the SDHD gene. Names previously used for SDHD were PGL and PGL1.

2024年12月25日 · SDHD (Succinate Dehydrogenase Complex Subunit D) is a Protein Coding gene. Diseases associated with SDHD include Paraganglioma And Gastric Stromal Sarcoma and Pheochromocytoma/Paraganglioma Syndrome 1. Among its related pathways are Citric acid cycle (TCA cycle) and Respiratory electron transport.

HGNC Approved Gene Symbol: SDHD. Cytogenetic location: 11q23.1 Genomic coordinates (GRCh38) : 11:112,086,873-112,095,794 (from NCBI) The SDHD gene encodes an integral membrane protein subunit of the succinate dehydrogenase (EC 1.3.5.1) complex (summary by Hirawake et al., 1997).

2013年4月24日 · In this study, we simultaneously sequenced the genome of all subunits, SDHA, SDHB, SDHC, and SDHD in a larger series of KIT/PDGFRA wild-type GIST in order to evaluate the frequency of the mutations...

Carriers of succinate dehydrogenase (SDHx) mutations are at risk of developing phaeochromocytomas, catecholamine secreting extra-adrenal paragangliomas and non-secretory head and neck paragangliomas and require lifelong surveillance.

The SDHD 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. The SDHD protein helps anchor the SDH enzyme in the mitochondrial membrane.

2005年11月16日 · Germline mutations of SDHD and SDHB are a major cause of the hereditary forms of the tumors paraganglioma and pheochromocytoma. The largest subunit, SDHA, is mutated in patients with Leigh syndrome and late-onset optic atrophy, but has not as yet been identified as a factor in hereditary cancer.

2021年6月12日 · SDHD, one of the four subunits of Complex II, serves by anchoring the complex to the inner-membrane and transferring electrons from the complex to ubiquinone. Thus, modeling SDHD dysfunction could be a valuable tool for understanding its importance in metabolism and developing novel therapeutics, however no suitable models exist.

One of the candidate driver genetic alterations can happen in succinate dehydrogenases (SDHx) coding gene include SDHA, SDHB, SDHC, SDHD, and SDHAF2. The most important SDH mutation is in the SDHD gene, which encodes the smallest …

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