Aladin also known as
adracalin is a
proteinProteins are biochemical compounds consisting of one or more polypeptides typically folded into a globular or fibrous form, facilitating a biological function. A polypeptide is a single linear polymer chain of amino acids bonded together by peptide bonds between the carboxyl and amino groups of...
that in humans is encoded by the
AAAS geneA gene is a molecular unit of heredity of a living organism. It is a name given to some stretches of DNA and RNA that code for a type of protein or for an RNA chain that has a function in the organism. Living beings depend on genes, as they specify all proteins and functional RNA chains...
[achalasia, adrenocortical insufficiency, alacrimia (Allgrove, triple-A)].
Discussion
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Aladin also known as
adracalin is a
proteinProteins are biochemical compounds consisting of one or more polypeptides typically folded into a globular or fibrous form, facilitating a biological function. A polypeptide is a single linear polymer chain of amino acids bonded together by peptide bonds between the carboxyl and amino groups of...
that in humans is encoded by the
AAAS geneA gene is a molecular unit of heredity of a living organism. It is a name given to some stretches of DNA and RNA that code for a type of protein or for an RNA chain that has a function in the organism. Living beings depend on genes, as they specify all proteins and functional RNA chains...
[achalasia, adrenocortical insufficiency, alacrimia (Allgrove, triple-A)].
Clinical significance
Mutations in the AAAS gene are responsible for
Triple A syndromeTriple-A syndrome , also known as Achalasia-Addisonianism-Alacrimia syndrome or Allgrove Syndrome, is a rare autosomal recessive congenital disorder. In most cases, there is no family history of it. The syndrome was discovered by Jeremy Allgrove and colleagues in 1978. Triple A stands for...
(also known as Allgrove Syndrome).
Further reading