SDHF1 Rabbit Polyclonal Antibody, 50ul Serum & Sample Tubes MIM 165390)

MIM 165390)

Has guanine nucleotide-binding activity but undetectable intrinsic GTPase activity

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Mutations in this gene are also associated with hyperphosphatemic familial tumoral calcinosis (HFTC)

SDHF1 Rabbit Polyclonal Antibody, 50ul Serum & Sample Tubes MIM 165390)The succinate dehydrogenase (SDH) complex (or complex II) of the mitochondrial respiratory chain is composed of 4 individual subunits. The protein encoded by this gene resides in the mitochondria and is essential for SDH assembly but does not physically associate with the complex in vivo. Mutations in this gene are associated with SDH defective infantile leukoencephalopathy (mitochondrial complex II deficiency).