Succinate dehydrogenase complex, subunit A, flavoprotein variant is a protein that in humans is encoded by the SDHA gene. [5] . This gene encodes a major catalytic subunit of succinate …

The SDHA gene mutations responsible for Leigh syndrome change single amino acids in the SDHA protein or result in an abnormally short protein. These genetic changes disrupt the …

In addition to PGLs and PCCs, SDHA mutations can lead to Carney-Stratakis syndrome and gastrointestinal stromal tumors (GIST). Knowing if you have an SDHA mutation can help you …

2025年3月30日 · SDHA (Succinate Dehydrogenase Complex Flavoprotein Subunit A) is a Protein Coding gene. Diseases associated with SDHA include Cardiomyopathy, Dilated, 1Gg and …

2023年12月20日 · Sdha gene: Functions, Mutations, and Role in Disease. The Sdha gene, also known as succinate dehydrogenase complex subunit A, plays a crucial role in cellular energy …

Because of low incidence of succinate dehydrogenase complex subunit A (SDHA)-related metastatic PHEO/PGL, currently there exists insufficient clinical information, especially with …

In order of decreasing molecular mass, these are the flavoprotein subunit (SDHA), the iron sulfur protein subunit (SDHB; 185470), and the integral membrane protein subunits SDHC and …

Loss of SDHA expression identifies SDHA mutations in succinate dehydrogenase-deficient gastrointestinal stromal tumors. SDHA-negative gastrointestinal stromal tumors comprise …

The SDHA gene provides instructions for making one of four parts (subunits) of the succinate dehydrogenase (SDH) enzyme. The SDH enzyme plays a critical role in mitochondria, which …

2023年10月1日 · SDHA is the most commonly identified pathogenic variant in SDH deficiency. Mutations related to SDH deficiency induce the loss of tumor suppressor function. SDHAF4 …