Document Type
Article
Publication Date
9-29-2022
Abstract
Pseudoxanthoma elasticum, a heritable multisystem ectopic mineralization disorder, is caused by inactivating mutations in the ABCC6 gene. The encoded protein, ABCC6, a transmembrane transporter, has a specialized efflux function in hepatocytes by contributing to plasma levels of inorganic pyrophosphate, a potent inhibitor of mineralization in soft connective tissues. Reduced plasma inorganic pyrophosphate levels underlie the ectopic mineralization in pseudoxanthoma elasticum. In this study, we characterized the pathogenicity of three human ABCC6 missense variants using an adenovirus-mediated liver-specific ABCC6 transgene expression system in an Abcc6
Recommended Citation
Kowal, Luke; Huang, Jianhe; Luo, Hongbin; Singh, Jagmohan; Snook, Adam E; Uitto, Jouni; and Li, Qiaoli, "Functional Assessment of Missense Variants in the ABCC6 Gene Implicated in Pseudoxanthoma Elasticum, a Heritable Ectopic Mineralization Disorder." (2022). Department of Pharmacology and Experimental Therapeutics Faculty Papers. Paper 146.
https://jdc.jefferson.edu/petfp/146
Creative Commons License
This work is licensed under a Creative Commons Attribution-Noncommercial-No Derivative Works 4.0 License.
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PubMed ID
34597610
Language
English
Comments
This is the author's accepted manuscript version of the article from the Journal of Investigative Dermatology, 2022 Apr;142(4):1085-1093.
The final published version of the article can be found at: https://doi.org/10.1016/j.jid.2021.08.435