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Sdhaf2 encodes a mitochondrial protein needed for the flavination of a succinate dehydrogenase complex subunit required for activity of the complex. Zusätzlich bieten wir Ihnen Sdhaf2 Proteine (9) und und viele weitere Produktgruppen zu diesem Protein an.
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Loss of SDHAF2 gene is associated with paragangliomas.
The SDHA, TMEM127, MAX, and SDHAF2 genes contribute to hereditary pheochromocytoma and paraganglioma.
data show that SDHA flavination is independent of SDHAF2 in breast cancer cells, employing an alternative mechanism.
FAD interacts noncovalently with SDHA in the absence of SDH5
Autosomal dominant susceptibility for Paraganglioma is modified by imprinting and mutations in the SDHAF2 gene cause Paragangliomas only when the mutation is inherited from father.
Loss of heterozygosity was found in more than 50 % of the von Hippel-Lindau-associated pheochromocytomas, and was correlated with a significant decrease (p < 0.05) in both SDHAF2 and SDHD mRNA expression, which may be suggestive of a pathogenic role.
New mutation found in SDHAF2 gene in pheochromocytoma/paraganglioma patients.
Data indicate that SDH5 is protected from mitochondrial LON (LONM)-mediated degradation in mitochondria by its stable interaction with SDHA, a state that is dysregulated in hereditary paraganglioma 2 (PGL2).
Data indicate that succinate dehydrogenase 5 (SDH5) functions as a critical protein in regulating epithelial-mesenchymal transition (EMT) by modulating the glycogen synthase kinase (GSK)-3beta-beta-catenin signaling pathway.
Studies indicate that mutations in the mitochondrial complex II structural subunit genes SDHB, SDHC and SDHD and the regulatory subunit gene SDHAF2 in many paraganglioma families.
Studies indicate that an array of tumor syndromes caused by complex II-associated mutations in genes SDHA, SDHB, SDHC, SDHD, SDHAF1 and SDHAF2 have been identified over a decade.
Studies indicate that the flavinylation factor Sdh5 (SDHAF2) provided insight into the possible mechanism associated with Sdh1 (SDHA) flavinylation.
We established the SDHAF2 mutation status of PGL2 family members
Somatic mutations of the SDHAF2 tumor suppressor gene are unlikely to frequently contribute to parathyroid tumor development in sporadic primary hyperparathyroidism.
germline loss-of-function mutations in the SDH5 gene segregate with disease in a family with hereditary paraganglioma
This gene encodes a mitochondrial protein needed for the flavination of a succinate dehydrogenase complex subunit required for activity of the complex. Mutations in this gene are associated with paraganglioma.
succinate dehydrogenase complex assembly factor 2
, succinate dehydrogenase assembly factor 2, mitochondrial
, SDH assembly factor 2
, Protein EMI5 homolog, mitochondrial
, succinate dehydrogenase subunit 5, mitochondrial