NPT4, a new microsomal phosphate transporter: mutation analysis in glycogen storage disease type Ic.

doi:10.1023/B:BOLI.0000045755.89308.2f

Article

NPT4, a new microsomal phosphate transporter: mutation analysis in glycogen storage disease type Ic.

Journal of inherited metabolic disease - 1 Jan 2004

Melis D, Havelaar A C, Verbeek E, Smit G P A, Benedetti A, Mancini G M S, Verheijen F

Abstract excerpt

Deficiency of a microsomal phosphate transporter in the liver has been suggested in some patients affected by glycogen storage disease type Ic (GSD Ic). Several Na(+)/phosphate co-transporters have been characterized as members of the anion-cation symporter family. Recently, the cDNA sequence of two phosphate transporters, NPT3 and NPT4, expressed in liver, kidney and intestine, has been determined. We studied...

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NPT4, a new microsomal phosphate transporter: mutation analysis in glycogen storage disease type Ic.

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