The cation-leaky hereditary stomatocytosis syndromes: A tale of six proteins.
GLUT1
KCNN4
PIEZO1
haemolytic anaemia
hereditary stomatocytosis
pseudohyperkalaemia
Journal
British journal of haematology
ISSN: 1365-2141
Titre abrégé: Br J Haematol
Pays: England
ID NLM: 0372544
Informations de publication
Date de publication:
11 2023
11 2023
Historique:
revised:
13
08
2023
received:
07
06
2023
accepted:
22
08
2023
medline:
15
11
2023
pubmed:
8
9
2023
entrez:
7
9
2023
Statut:
ppublish
Résumé
This review concerns a series of dominantly inherited haemolytic anaemias in which the membrane of the erythrocyte 'leaks' the univalent cations, compromising the osmotic stability of the cell. The majority of the conditions are explained by mutations in one of six genes, coding for multispanning membrane proteins of different structure and function. These are: RhAG, coding for an ammonium carrier; SLC4A1, coding for the band 3 anion exchanger; PIEZO1, coding for a mechanosensitive cation channel; GLUT1, coding for a glucose transporter; KCNN4, coding for an internal-calcium-activated potassium channel; and ABCB6, coding for a porphyrin transporter. This review describes the five clinical syndromes associated with genetic defects in these genes and their variable genotype/phenotype relationships.
Substances chimiques
Membrane Proteins
0
Cations
0
PIEZO1 protein, human
0
Ion Channels
0
Types de publication
Journal Article
Review
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
509-522Subventions
Organisme : British Heart Foundation
ID : 31966
Pays : United Kingdom
Informations de copyright
© 2023 British Society for Haematology and John Wiley & Sons Ltd.
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