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Tissue-specific expression and subcellular localization of ALADIN, the absence of which causes human triple A syndrome
Experimental & Molecular Medicine ; : 381-386, 2009.
Article in English | 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.
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Full text: Available Index: WPRIM (Western Pacific) Main subject: Syndrome / RNA, Messenger / HeLa Cells / Tissue Distribution / Esophageal Achalasia / Mutagenesis, Site-Directed / Cloning, Molecular / Adrenal Insufficiency / DNA, Complementary / Gene Expression Profiling Type of study: Etiology study Limits: Humans Language: English Journal: Experimental & Molecular Medicine Year: 2009 Type: Article

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Full text: Available Index: WPRIM (Western Pacific) Main subject: Syndrome / RNA, Messenger / HeLa Cells / Tissue Distribution / Esophageal Achalasia / Mutagenesis, Site-Directed / Cloning, Molecular / Adrenal Insufficiency / DNA, Complementary / Gene Expression Profiling Type of study: Etiology study Limits: Humans Language: English Journal: Experimental & Molecular Medicine Year: 2009 Type: Article