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Tissue-specific expression and subcellular localization of ALADIN, the absence of which causes human triple A syndrome.

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.

SUBMITTER: Cho AR

PROVIDER: S-EPMC2705858 | biostudies-literature | 2009 Jun

REPOSITORIES: biostudies-literature

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Tissue-specific expression and subcellular localization of ALADIN, the absence of which causes human triple A syndrome.

Cho A Ri AR Yang Keum Jin KJ Bae Yoonsun Y Bahk Young Yil YY Kim Eunmin E Lee Hyungnam H Kim Jeong Ki JK Park Wonsang W Rhim Hyanshuk H Choi Soo Young SY Imanaka Tsuneo T Moon Sungdae S Yoon Jongbok J Yoon Sungjoo Kim SK

Experimental & molecular medicine 20090601 6

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 e ...[more]

PMID: 19322026

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Dataset Information

Tissue-specific expression and subcellular localization of ALADIN, the absence of which causes human triple A syndrome.

Publications

Tissue-specific expression and subcellular localization of ALADIN, the absence of which causes human triple A syndrome.

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