Tissue-specific expression and subcellular localization of ALADIN, the absence of which causes human triple A syndrome
Experimental & Molecular Medicine
;
: 381-386, 2009.
Artigo
em Inglês
| WPRIM
| ID: wpr-196699
ABSTRACT
Triple A syndrome is a rare genetic disorder caused by mutations in the achalasia-addisonianism-alacrima syndrome (AAAS) gene which encodes a tryptophan aspartic acid (WD) repeat-containing protein named alacrima-achalasia-adrenal insufficiency neurologic disorder (ALADIN). Northern blot analysis shows that the 2.1 kb AAAS mRNA is expressed in various tissues with stronger expression in testis and pancreas. We show that human ALADIN is a protein with an apparent molecular weight of 60 kDa, and expressed in the adrenal gland, pituitary gland and pancreas. Furthermore, biochemical analysis using anti-ALADIN antibody supports the previous finding of the localization of ALADIN in the nuclear membrane. The mutations S544G and S544X show that alteration of S544 residue affects correct targeting of ALADIN to the nuclear membrane.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Síndrome
/
RNA Mensageiro
/
Células HeLa
/
Distribuição Tecidual
/
Acalasia Esofágica
/
Mutagênese Sítio-Dirigida
/
Clonagem Molecular
/
Insuficiência Adrenal
/
DNA Complementar
/
Perfilação da Expressão Gênica
Tipo de estudo:
Estudo de etiologia
Limite:
Humanos
Idioma:
Inglês
Revista:
Experimental & Molecular Medicine
Ano de publicação:
2009
Tipo de documento:
Artigo
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