Aladin, also known as adracalin, is a
nuclear envelope protein
Proteins are large biomolecules and macromolecules that comprise one or more long chains of amino acid residue (biochemistry), residues. Proteins perform a vast array of functions within organisms, including Enzyme catalysis, catalysing metab ...
that in humans is encoded by the ''AAAS''
gene
In biology, the word gene has two meanings. The Mendelian gene is a basic unit of heredity. The molecular gene is a sequence of nucleotides in DNA that is transcribed to produce a functional RNA. There are two types of molecular genes: protei ...
.
It is named after the achalasia–addisonianism–alacrima syndrome (
triple A syndrome) which occurs when the gene is mutated.
Function
Aladin is a component of the
nuclear pore
The nuclear pore complex (NPC), is a large protein complex giving rise to the nuclear pore. A great number of nuclear pores are studded throughout the nuclear envelope that surrounds the eukaryote cell nucleus. The pores enable the nuclear tran ...
complex, to which it is attached by
nucleoporin NDC1.
Mutant aladin causes selective failure of
nuclear protein import and hypersensitivity to
oxidative stress.
Mutant aladin also causes decreased nuclear import of
aprataxin, a
repair protein for single-strand breaks, and DNA
ligase I, employed in DNA
base excision repair.
These decreases in
DNA repair
DNA repair is a collection of processes by which a cell (biology), cell identifies and corrects damage to the DNA molecules that encode its genome. A weakened capacity for DNA repair is a risk factor for the development of cancer. DNA is cons ...
proteins may increase the susceptibility of cells to oxidative stress by allowing accumulation of
oxidative DNA damages that trigger cell death.
Clinical significance
Mutations in the AAAS gene are responsible for
Triple A syndrome (also known as Allgrove Syndrome).
is an
autosomal
An autosome is any chromosome that is not a sex chromosome. The members of an autosome pair in a diploid cell have the same morphology, unlike those in allosomal (sex chromosome) pairs, which may have different structures. The DNA in autosome ...
recessive
neuroendocrinological disease.
Aladin is also employed in specific
oocyte meiotic stages, including
spindle assembly and spindle positioning.
Female mice homozygously null for aladin are sterile.
References
Further reading
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External links
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Nuclear pore complex
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