AladinTM, also known as adracalin, is a
nuclear envelope
The nuclear envelope, also known as the nuclear membrane, is made up of two lipid bilayer membranes that in eukaryotic cells surround the nucleus, which encloses the genetic material.
The nuclear envelope consists of two lipid bilayer membrane ...
protein
Proteins are large biomolecules and macromolecules that comprise one or more long chains of amino acid residues. Proteins perform a vast array of functions within organisms, including catalysing metabolic reactions, DNA replication, respo ...
that in humans is encoded by the ''AAAS''
gene
In biology, the word gene (from , ; "...Wilhelm Johannsen coined the word gene to describe the Mendelian units of heredity..." meaning ''generation'' or ''birth'' or ''gender'') can have several different meanings. The Mendelian gene is a ba ...
.
It is named after the achalasia–addisonianism–alacrima syndrome (
triple A syndrome
Triple-A syndrome or AAA syndrome is a rare autosomal recessive congenital disorder. In most cases, there is no family history of AAA syndrome. The syndrome was first identified by Jeremy Allgrove and colleagues in 1978, since then just over 100 ...
) which occurs when the gene is mutated.
Function
Aladin is a component of the
nuclear pore
A nuclear pore is a part of a large complex of proteins, known as a nuclear pore complex that spans the nuclear envelope, which is the double membrane surrounding the eukaryotic cell nucleus. There are approximately 1,000 nuclear pore complexes ...
complex, to which it is attached by
nucleoporin NDC1
Nucleoporin NDC1 is a protein that in humans is encoded by the ''TMEM48'' gene. It anchors aladin to the nuclear pore complex
A nuclear pore is a part of a large complex of proteins, known as a nuclear pore complex that spans the nuclear enve ...
.
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
Base excision repair (BER) is a cellular mechanism, studied in the fields of biochemistry and genetics, that repairs damaged DNA throughout the cell cycle. It is responsible primarily for removing small, non-helix-distorting base lesions from t ...
.
These decreases in
DNA repair
DNA repair is a collection of processes by which a cell identifies and corrects damage to the DNA molecules that encode its genome. In human cells, both normal metabolic activities and environmental factors such as radiation can cause DNA dam ...
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
Triple-A syndrome or AAA syndrome is a rare autosomal recessive congenital disorder. In most cases, there is no family history of AAA syndrome. The syndrome was first identified by Jeremy Allgrove and colleagues in 1978, since then just over 100 ...
(also known as Allgrove Syndrome).
Triple-A syndrome
Triple-A syndrome or AAA syndrome is a rare autosomal recessive congenital disorder. In most cases, there is no family history of AAA syndrome. The syndrome was first identified by Jeremy Allgrove and colleagues in 1978, since then just over 100 ...
is an
autosomal recessive
neuroendocrinological disease.
Aladin is also employed in specific
oocyte
An oocyte (, ), oöcyte, or ovocyte is a female gametocyte or germ cell involved in reproduction. In other words, it is an immature ovum, or egg cell. An oocyte is produced in a female fetus in the ovary during female gametogenesis. The female ...
meiotic
Meiosis (; , since it is a reductional division) is a special type of cell division of germ cells in sexually-reproducing organisms that produces the gametes, such as sperm or egg cells. It involves two rounds of division that ultimately res ...
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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