Relevance of solute carrier family 5 transporter defects to inherited and acquired human disease.
J Appl Genet
; 60(3-4): 305-317, 2019 Nov.
Article
em En
| MEDLINE
| ID: mdl-31286439
ABSTRACT
The solute carrier (SLC) group of membrane transport proteins is crucial for cells via their control of import and export of vital molecules across the cellular membrane. Defects in these transporters with narrow substrate specificities cause monogenic disorders, giving us essential clues of their precise roles in cellular functioning. The SLC5 family in particular has been linked to various human diseases, of mild and severe phenotype as well as high and low prevalence. In this review, we describe the effects on health of SLC5 dysfunction and dysregulation by summarizing findings in patients with transporter gene defects. Patients display a plethora of pathologies which include glucose/galactose malabsorption, familiar renal glycosuria, thyroid dyshormonogenesis, and distal hereditary motor neuronopathies. In addition, the therapeutic potential of intervening in transporter activities for treating common diseases such as diabetes and cancer is explored.
Palavras-chave
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Transtornos do Metabolismo de Glucose
/
Diabetes Mellitus
/
Proteínas Carreadoras de Solutos
/
Neoplasias
Tipo de estudo:
Risk_factors_studies
Limite:
Humans
Idioma:
En
Ano de publicação:
2019
Tipo de documento:
Article