What is the official name of the RLBP1 gene?
The official name of this gene is “retinaldehyde binding protein 1.”
RLBP1 is the gene's official symbol. The RLBP1 gene is also known by other names, listed below.
Read more about gene names and symbols on the About page.
What is the normal function of the RLBP1 gene?
- From Entrez Gene:
The protein encoded by this gene is a 36-kD water-soluble protein which carries 11-cis-retinaldehyde or 11-cis-retinal as physiologic ligands. It may be a functional component of the visual cycle. Mutations of this gene have been associated with severe rod-cone dystrophy, Bothnia dystrophy (nonsyndromic autosomal recessive retinitis pigmentosa) and retinitis punctata albescens. [provided by RefSeq, Jul 2008]
- From UniProt:
Soluble retinoid carrier essential the proper function of both rod and cone photoreceptors. Participates in the regeneration of active 11-cis-retinol and 11-cis-retinaldehyde, from the inactive 11-trans products of the rhodopsin photocycle and in the de novo synthesis of these retinoids from 11-trans metabolic precursors. The cycling of retinoids between photoreceptor and adjacent pigment epithelium cells is known as the 'visual cycle'.
How are changes in the RLBP1 gene related to health conditions?
- Genetics Home Reference provides information about retinitis pigmentosa, which is associated with changes in the RLBP1 gene.
- UniProt provides the following information about the RLBP1 gene's known or predicted involvement in human disease.
Retinitis pigmentosa autosomal recessive (ARRP): 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. Note=The disease is caused by mutations affecting the gene represented in this entry.
Bothnia retinal dystrophy (BRD): A type of retinitis punctata albescens. Affected individuals show night blindness from early childhood with features consistent with retinitis punctata albescens and macular degeneration. Note=The disease is caused by mutations affecting the gene represented in this entry.
Rod-cone dystrophy Newfoundland (NFRCD): A rod-cone dystrophy reminiscent of retinitis punctata albescens but with a substantially lower age at onset and more-rapid and distinctive progression. Rod-cone dystrophies results from initial loss of rod photoreceptors, later followed by cone photoreceptors loss. Note=The disease is caused by mutations affecting the gene represented in this entry.
Retinitis punctata albescens (RPA): Rare form of stationary night blindness characterized by a delay in the regeneration of cone and rod photopigments. Note=The disease is caused by mutations affecting the gene represented in this entry.
- Entrez Gene lists the following diseases or traits (phenotypes) known or believed to be associated with changes in the RLBP1 gene.
- Bothnia retinal dystrophy
- Newfoundland rod-cone dystrophy
- Pigmentary retinal dystrophy
- UniProt and Entrez Gene cite these articles in OMIM, a catalog designed for genetics professionals and researchers that provides detailed information about genetic conditions and genes.
Where is the RLBP1 gene located?
Cytogenetic Location: 15q26
Molecular Location on chromosome 15: base pairs 89,753,097 to 89,764,921
The RLBP1 gene is located on the long (q) arm of chromosome 15 at position 26.
More precisely, the RLBP1 gene is located from base pair 89,753,097 to base pair 89,764,921 on chromosome 15.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about RLBP1?
You and your healthcare professional may find the following resources about RLBP1 helpful.
- Genetic Testing Registry - Repository of genetic test information
You may also be interested in these resources, which are designed for genetics professionals and researchers.
- OMIM - Genetic disorder catalog
- Research Resources - Tools for researchers
What other names do people use for the RLBP1 gene or gene products?
Where can I find general information about genes?
The Handbook provides basic information about genetics in clear language.
These links provide additional genetics resources that may be useful.
What glossary definitions help with understanding RLBP1?
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
See How can I find a genetics professional in my area? in the Handbook.