The histidin-loop is essential for transport activity of human MDR3: a novel mutation of MDR3 in a patient with progressive familial intrahepatic cholestasis type 3
Experimental evidence has been provided that a histidine-loop within the nucleotide binding domain of ABC transporter is essential for efficient function of this class of transporter proteins. Here we report the first patient with a mutation of the putative histidine‐loop of a human ABC transporter,...
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| Main Authors: | , , |
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| Format: | Article (Journal) |
| Language: | English |
| Published: |
3 July 2012
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| In: |
Gene
Year: 2012, Volume: 506, Issue: 1, Pages: 141-145 |
| ISSN: | 1879-0038 |
| DOI: | 10.1016/j.gene.2012.06.029 |
| Online Access: | Verlag, Volltext: https://doi.org/10.1016/j.gene.2012.06.029 Verlag, Volltext: http://www.sciencedirect.com/science/article/pii/S0378111912007226 
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| Author Notes: | Tamar Dzagania, Guido Engelmann, Dieter Häussinger, Lutz Schmitt, Christa Flechtenmacher, Irakli Rtskhiladze, Ralf Kubitz |
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| 520 | |a Experimental evidence has been provided that a histidine-loop within the nucleotide binding domain of ABC transporter is essential for efficient function of this class of transporter proteins. Here we report the first patient with a mutation of the putative histidine‐loop of a human ABC transporter, the multi drug resistance protein 3 (MDR3). The patient presented at the age of 4years with a history of severe pruritus, elevated serum gamma-glutamyltransferase and bile acid levels since several years suggesting the diagnosis of progressive familial intrahepatic cholestasis type 3 (PFIC-3) due to defects in MDR3. Liver biopsy demonstrated an apparently normal MDR3 expression, however, genetic analysis revealed a novel homozygous mutation in the ABCB4 gene (c.3691C>T) in the patient. This mutation was associated with a change of histidine to tyrosine at amino acid position 1231 of MDR3 (p.H1231Y). As shown by sequence alignment, this amino acid corresponds to the highly conserved histidine of the “H-loop”, which is critical for ATP-hydrolysis, suggesting an essential role of histidine 1231 of human MDR3. | ||
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