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The official name of this gene is “neural retina leucine zipper.”
NRL is the gene's official symbol. The NRL gene is also known by other names, listed below.
This gene encodes a basic motif-leucine zipper transcription factor of the Maf subfamily. The encoded protein is conserved among vertebrates and is a critical intrinsic regulator of photoceptor development and function. Mutations in this gene have been associated with retinitis pigmentosa and retinal degenerative diseases. [provided by RefSeq, Jul 2008]
Transcription factor which regulates the expression of several rod-specific genes, in cluding RHO and PDE6B.
Retinitis pigmentosa 27 (RP27): A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. The disease is caused by mutations affecting the gene represented in this entry.
Retinal degeneration autosomal recessive clumped pigment type (RDCP): A retinopathy characterized by night blindness since early childhood, consistent with a severe reduction in rod function. Color vision is normal although there is a relatively enhanced function of short-wavelength-sensitive cones in the macula. Signs of retinal degeneration and clusters of clumped pigment deposits in the peripheral fundus at the level of the retinal pigment epithelium are present. The disease is caused by mutations affecting the gene represented in this entry.
|613750 (http://omim.org/entry/613750)||RETINITIS PIGMENTOSA 27|
|162080 (http://omim.org/entry/162080)||NEURAL RETINA LEUCINE ZIPPER|
Cytogenetic Location: 14q11.1-q11.2
Molecular Location on chromosome 14: base pairs 24,078,692 to 24,114,801
The NRL gene is located on the long (q) arm of chromosome 14 between positions 11.1 and 11.2.
More precisely, the NRL gene is located from base pair 24,078,692 to base pair 24,114,801 on chromosome 14.
See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.
You and your healthcare professional may find the following resources about NRL helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
autosomal ; autosomal recessive ; cones ; degenerative ; epithelium ; fundus ; gene ; leucine ; macula ; motif ; peripheral ; photoreceptor ; pigment ; protein ; recessive ; retina ; transcription ; transcription factor
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.