SLC4A2 Deficiency Causes a New Type of Osteopetrosis.
MUTATION
OSTEOCLAST
OSTEOPETROSIS
SLC4A2
Journal
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research
ISSN: 1523-4681
Titre abrégé: J Bone Miner Res
Pays: United States
ID NLM: 8610640
Informations de publication
Date de publication:
02 2022
02 2022
Historique:
revised:
04
10
2021
received:
28
05
2021
accepted:
07
10
2021
pubmed:
21
10
2021
medline:
15
3
2022
entrez:
20
10
2021
Statut:
ppublish
Résumé
Osteopetrosis is a group of rare inherited skeletal disorders characterized by a marked increase in bone density due to deficient bone resorption. Pathogenic variants in several genes involved in osteoclast differentiation and/or function have been reported to cause osteopetrosis. Solute carrier family 4 member 2 (SLC4A2, encoding anion exchanger 2) plays an important role in osteoclast differentiation and function by exchange of Cl
Substances chimiques
Chloride-Bicarbonate Antiporters
0
SLC4A2 protein, human
0
Types de publication
Case Reports
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
226-235Informations de copyright
© 2021 American Society for Bone and Mineral Research (ASBMR).
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