Aryl-hydrocarbon-interacting protein-like 1 is a
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 ''AIPL1''
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 ...
.
The protein is a member of
FKBP prolyl isomerase family.
Function
Leber congenital amaurosis (LCA) accounts for at least 5% of all inherited
retinal disease and is the most severe inherited
retinopathy
Retinopathy is any damage to the retina of the eyes, which may cause vision impairment. Retinopathy often refers to retinal vascular disease, or damage to the retina caused by abnormal blood flow. Age-related macular degeneration is technically in ...
with the earliest
age of onset. Individuals affected with LCA are diagnosed at birth or in the first few months of life with severely impaired vision or blindness,
nystagmus
Nystagmus is a condition of involuntary (or voluntary, in some cases) Eye movement (sensory), eye movement. People can be born with it but more commonly acquire it in infancy or later in life. In many cases it may result in visual impairment, re ...
and an abnormal or flat
electroretinogram
Electroretinography measures the electrical responses of various cell types in the retina, including the photoreceptors ( rods and cones), inner retinal cells ( bipolar and amacrine cells), and the ganglion cells. Electrodes are placed on the ...
. The photoreceptor/
pineal
The pineal gland (also known as the pineal body or epiphysis cerebri) is a small endocrine gland in the brain of most vertebrates. It produces melatonin, a serotonin-derived hormone, which modulates sleep patterns following the diurnal cycles. ...
-expressed gene, AIPL1, encoding aryl-hydrocarbon interacting protein-like 1, was mapped within the LCA4 candidate region. The protein contains three
tetratricopeptide motifs, consistent with
nuclear transport Nuclear transport refers to the mechanisms by which molecules move across the nuclear membrane of a cell. The entry and exit of large molecules from the cell nucleus is tightly controlled by the nuclear pore complexes (NPCs). Although small molecule ...
or
chaperone activity. AIPL1 mutations may cause approximately 20% of
recessive
In genetics, dominance is the phenomenon of one variant (allele) of a gene on a chromosome masking or overriding the effect of a different variant of the same gene on the other copy of the chromosome. The first variant is termed dominant and ...
LCA.
Interactions
AIPL1 has been shown to
interact with
NUB1.
See also
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Aryl hydrocarbon
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Aryl hydrocarbon receptor
The aryl hydrocarbon receptor (also known as AhR, AHR, ahr, ahR, AH receptor, or as the dioxin receptor) is a protein that in humans is encoded by the AHR gene. The aryl hydrocarbon receptor is a transcription factor that regulates gene express ...
*
AH receptor-interacting protein
AH receptor-interacting protein (AIP) also known as aryl hydrocarbon receptor-interacting protein, immunophilin homolog ARA9, or HBV X-associated protein 2 (XAP-2) is a protein that in humans is encoded by the ''AIP'' gene. The protein is a memb ...
, AIP
References
Further reading
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External links
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GeneReviews/NCBI/NIH/UW entry on Retinitis Pigmentosa Overview
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