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Article

Coding sequence mutations in the alpha subunit of propionyl-CoA carboxylase in patients with propionic acidemia.

Molecular genetics and metabolism - 1 May 1999

Campeau E, Dupuis L, León-Del-Rio A, Gravel R

Abstract excerpt

Propionic acidemia is a rare autosomal recessive disorder of intermediary metabolism. It is caused by a deficiency of the mitochondrial enzyme propionyl-CoA carboxylase (PCC, EC 6.4.1.3), a heteropolymeric protein composed of two subunits, alpha and beta. PCC requires ATP and biotin as cofactors for the reaction, the latter enzymatically added onto the alpha subunit. We investigated coding sequence mutations in...

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Identifiers

PMID: 10329019
DOI: 10.1006/mgme.1999.2850

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Coding sequence mutations in the alpha subunit of propionyl-CoA carboxylase in patients with propionic acidemia.PMID 10329019Read ↗

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