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Adracalin

Adracalin 단백질 및 항체

Entrez Gene Summary for AdracalinEntrez 유전자 요약


OMIM-Description for AdracalinOMIM-설명


The disease locus for triple-A syndrome (231550), which results in life-threatening hypoglycemic episodes and severe feeding difficulties related to achalasia and gastric atonia, was localized to 12q13 (Weber et al., 1996; Stratakis et al., 1997). Using fine-mapping based on linkage disequilibrium in North African inbred families, Tullio-Pelet et al. (2000) identified a short ancestral haplotype on 12q13 (less than 1 cM), sequenced a BAC contig encompassing the triple-A minimal region, and identified a novel gene designated AAAS, encoding a 547-amino acid protein, called aladin, that was mutant in affected individuals. Aladin (for 'alacrima-achalasia-adrenal insufficiency neurologic disorder') belongs to the WD-repeat family of regulatory proteins, indicating a new disease mechanism involved in the triple-A syndrome. The expression of the gene in both neuroendocrine and cerebral structures pointed to a role in the normal development of the peripheral and central nervous systems. By peptide mass fingerprint spectra, Dreger et al. (2001) identified adracalin in a TX100-resistant fraction of nuclear envelope proteins isolated from a mouse neuroblastoma cell line. Mouse adracalin is a nonmembrane-spanning protein and has an apparent molecular mass of 60 kD.

.zh=위키피디아 요약Adracalin


Aladin also known as adracalin is a protein that in humans is encoded by the AAAS gene [achalasia, adrenocortical insufficiency, alacrimia (Allgrove, triple-A)].

Adracalin 대체 이름

AAA,AAASb,GL003,ALADIN,ADRACALA,ADRACALIN, [homo-sapiens]
AAA,GL003,ADRACALA,D030041N15Rik, [mus-musculus]

Adracalin Related Products

Adracalin Proteins

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Adracalin Antibodies

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Adracalin cDNA Clones

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Adracalin ELISA

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