Medical Knowledge Cockpit
retinal dystrophy
Add Custom Markers
PubMed Links
No results
An error occurred
Get all information!
CYP4V2
Bietti crystalline corneoretinal dystrophy is caused by mutations in the novel gene CYP4V2
RLBP1
Assignment of the gene (RLBP1) for cellular retinaldehyde-binding protein (CRALBP) to human chromosome 15q26 and mouse chromosome 7
CRX
A mutation in NRL is associated with autosomal dominant retinitis pigmentosa
p300/CBP acts as a coactivator of the cone-rod homeobox transcription factor
ABCA4
The human photoreceptor rim protein gene (ABCR): genomic structure and primer set information for mutation analysis
Spectrum of ABCR gene mutations in autosomal recessive macular dystrophies
Genotype/Phenotype analysis of a photoreceptor-specific ATP-binding cassette transporter gene, ABCR, in Stargardt disease
Retinal stimulates ATP hydrolysis by purified and reconstituted ABCR, the photoreceptor-specific ATP-binding cassette transporter responsible for Stargardt disease
LRAT
Molecular and biochemical characterization of lecithin retinol acyltransferase
OTX2
Developmental malformations of the eye: the role of PAX6, SOX2 and OTX2
A vertebrate gene related to orthodenticle contains a homeodomain of the bicoid class and demarcates anterior neuroectoderm in the gastrulating mouse embryo
Developmental rescue of Drosophila cephalic defects by the human Otx genes
Cancer Gene Census
No results
An error occurred
Get all information!
Please search a gene to see results here
Definition
No results
An error occurred
Get all information!
Please search a gene to see results here
Pathways
No results
An error occurred
Get all information!
Ã
Modal title
Retinol metabolism
Homo sapiens (human)
one gene
Clinical Trials
No results
An error occurred
Get all information!
External
A First-in-human, Proof of Concept Study of CPK850 in Patients With RLBP1 Retinitis Pigmentosa