SLC10A7, an orphan member of the SLC10 family involved in congenital disorders of glycosylation.
Journal
Human genetics
ISSN: 1432-1203
Titre abrégé: Hum Genet
Pays: Germany
ID NLM: 7613873
Informations de publication
Date de publication:
Jul 2022
Jul 2022
Historique:
received:
05
06
2021
accepted:
14
12
2021
pubmed:
10
1
2022
medline:
12
7
2022
entrez:
9
1
2022
Statut:
ppublish
Résumé
SLC10A7, encoded by the so-called SLC10A7 gene, is the seventh member of a human sodium/bile acid cotransporter family, known as the SLC10 family. Despite similarities with the other members of the SLC10 family, SLC10A7 does not exhibit any transport activity for the typical SLC10 substrates and is then considered yet as an orphan carrier. Recently, SLC10A7 mutations have been identified as responsible for a new Congenital Disorder of Glycosylation (CDG). CDG are a family of rare and inherited metabolic disorders, where glycosylation abnormalities lead to multisystemic defects. SLC10A7-CDG patients presented skeletal dysplasia with multiple large joint dislocations, short stature and amelogenesis imperfecta likely mediated by glycosaminoglycan (GAG) defects. Although it has been demonstrated that the transporter and substrate specificities of SLC10A7, if any, differ from those of the main members of the protein family, SLC10A7 seems to play a role in Ca
Identifiants
pubmed: 34999954
doi: 10.1007/s00439-021-02420-x
pii: 10.1007/s00439-021-02420-x
doi:
Substances chimiques
Glycosaminoglycans
0
Organic Anion Transporters, Sodium-Dependent
0
Slc10a7 protein, human
0
Symporters
0
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
1287-1298Subventions
Organisme : Agence Nationale de la Recherche
ID : SKELGAG
Organisme : Agence Nationale de la Recherche
ID : EUROGLYCANomics
Informations de copyright
© 2022. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.
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