SDHAF2 : succinate dehydrogenase complex assembly factor 2
Delving into the World of SDHAF2: A Gene with Significant Implications
Description
The human genome houses a vast array of genes, each carrying unique instructions for the production of essential proteins. Among these genes, SDHAF2 stands out for its crucial role in cellular energy metabolism and tumor suppression. SDHAF2 is responsible for encoding the succinate dehydrogenase assembly factor 2 (SDHAF2) protein, which plays a pivotal role in the assembly and function of the succinate dehydrogenase (SDH) enzyme complex.
Associated Diseases
Alterations in the SDHAF2 gene have been linked to a spectrum of diseases, including:
- Pediatric and Adult Kidney Cancer: Germline mutations in SDHAF2 are frequently associated with hereditary kidney cancer syndromes, such as familial paraganglioma, pheochromocytoma, and renal cell carcinoma.
- Mitochondrial Encephalopathy: Mutations in SDHAF2 can disrupt mitochondrial function, leading to a group of disorders known as mitochondrial encephalopathies, characterized by neurological symptoms such as seizures, developmental delay, and movement problems.
- Hyperparathyroidism: SDHAF2 mutations have been implicated in primary hyperparathyroidism, a condition in which the parathyroid glands overproduce parathyroid hormone.
Did you Know ?
- Germline SDHAF2 mutations account for approximately 10-20% of all hereditary paragangliomas, emphasizing the gene‘s significance in the development of these tumors.
