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The official name of this gene is “membrane frizzled-related protein.”
MFRP is the gene's official symbol. The MFRP gene is also known by other names, listed below.
This gene encodes a member of the frizzled-related protein family. The encoded protein plays an important role in eye development and mutations in this gene have been associated with nanophthalmos, posterior microphthalmia, retinitis pigmentosa, foveoschisis, and optic disc drusen. The protein is encoded by a bicistronic transcript which also encodes C1q and tumor necrosis factor related protein 5 (C1QTNF5). [provided by RefSeq, Jun 2013]
May play a role in eye development.
Nanophthalmos 2 (NNO2): Rare autosomal recessive disorder of eye development characterized by extreme hyperopia and small functional eyes. The disease is caused by mutations affecting the gene represented in this entry.
Microphthalmia, isolated, 5 (MCOP5): A disorder characterized by posterior microphthalmia, retinitis pigmentosa, foveoschisis and optic disk drusen. Microphthalmia is a disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues. Ocular abnormalities like opacities of the cornea and lens, scaring of the retina and choroid, and other abnormalities may also be present. The disease is caused by mutations affecting the gene represented in this entry.
|609549 (http://omim.org/entry/609549)||NANOPHTHALMOS 2|
|611040 (http://omim.org/entry/611040)||MICROPHTHALMIA, ISOLATED 5|
|606227 (http://omim.org/entry/606227)||MEMBRANE-TYPE FRIZZLED-RELATED PROTEIN|
Cytogenetic Location: 11q23
Molecular Location on chromosome 11: base pairs 119,338,933 to 119,346,672
The MFRP gene is located on the long (q) arm of chromosome 11 at position 23.
More precisely, the MFRP gene is located from base pair 119,338,933 to base pair 119,346,672 on chromosome 11.
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 MFRP 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 ; bilateral ; choroid ; cornea ; gene ; necrosis ; posterior ; protein ; recessive ; retina ; transcript ; tumor
You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://ghr.nlm.nih.gov/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.