Mutations in GDI1 are responsible for X-linked non-specific mental retardation.
Nat Genet
; 19(2): 134-9, 1998 Jun.
Article
em En
| MEDLINE
| ID: mdl-9620768
ABSTRACT
Rab GDP-dissociation inhibitors (GDI) are evolutionarily conserved proteins that play an essential role in the recycling of Rab GTPases required for vesicular transport through the secretory pathway. We have found mutations in the GDI1 gene (which encodes uGDI) in two families affected with X-linked non-specific mental retardation. One of the mutations caused a non-conservative substitution (L92P) which reduced binding and recycling of RAB3A, the second was a null mutation. Our results show that both functional and developmental alterations in the neuron may account for the severe impairment of learning abilities as a consequence of mutations in GDI1, emphasizing its critical role in development of human intellectual and learning abilities.
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Base de dados:
MEDLINE
Assunto principal:
Proteínas de Ligação ao GTP
/
Inibidores de Dissociação do Nucleotídeo Guanina
/
Deficiência Intelectual
/
Mutação
Limite:
Humans
Idioma:
En
Ano de publicação:
1998
Tipo de documento:
Article