Functional Assessment of Missense Variants in the ABCC6 Gene Implicated in Pseudoxanthoma Elasticum, a Heritable Ectopic Mineralization Disorder.
Journal
The Journal of investigative dermatology
ISSN: 1523-1747
Titre abrégé: J Invest Dermatol
Pays: United States
ID NLM: 0426720
Informations de publication
Date de publication:
04 2022
04 2022
Historique:
received:
14
04
2021
revised:
16
08
2021
accepted:
25
08
2021
pubmed:
2
10
2021
medline:
10
5
2022
entrez:
1
10
2021
Statut:
ppublish
Résumé
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
Identifiants
pubmed: 34597610
pii: S0022-202X(21)02224-7
doi: 10.1016/j.jid.2021.08.435
pmc: PMC8957506
mid: NIHMS1744577
pii:
doi:
Substances chimiques
ABCC6 protein, human
0
Abcc6 protein, mouse
0
Diphosphates
0
Multidrug Resistance-Associated Proteins
0
Types de publication
Journal Article
Research Support, N.I.H., Extramural
Langues
eng
Sous-ensembles de citation
IM
Pagination
1085-1093Subventions
Organisme : NIAMS NIH HHS
ID : R01 AR072695
Pays : United States
Organisme : NIAMS NIH HHS
ID : R21 AR077332
Pays : United States
Commentaires et corrections
Type : CommentIn
Informations de copyright
Copyright © 2021 The Authors. Published by Elsevier Inc. All rights reserved.
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