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Required for normal heme biosynthesis (By similarity).. Additionally we are shipping IBA57 Antibodies (22) and and many more products for this protein.
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Description of four unrelated patients carrying novel mutations in IBA57; study expands the array of the genotypic variation of IBA57 and delineates the leukodystrophic pattern of IBA57 deficient patients
Findings reinforce the suggested specific function of IBA57 in mitochondrial [4Fe-4S] protein maturation and provide additional evidence for its role in hereditary spastic paraplegia
Mutation of the iron-sulfur cluster assembly gene IBA57 causes severe myopathy and encephalopathy.
ISCA1 (show ISCA1 Proteins), ISCA2 (show ISCA2 Proteins), and IBA57 were depleted by RNA interference. Depleted cells contained massively swollen and enlarged mitochondria that were virtually devoid of cristae membranes, demonstrating the importance of these proteins for mitochondrial biogenesis.
Required for normal heme biosynthesis (By similarity).
iron-sulfur cluster assembly factor for biotin synthase- and aconitase-like mitochondrial proteins, with a mass of 57kDa
, iron-sulfur cluster assembly factor homolog
, putative transferase C1orf69, mitochondrial
, putative transferase CAF17, mitochondrial
, putative transferase C1orf69 homolog, mitochondrial
, putative transferase CAF17 homolog, mitochondrial
, Putative transferase C1orf69 homolog, mitochondrial