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Genetics Home Reference: your guide to understanding genetic conditions
http://ghr.nlm.nih.gov/     A service of the U.S. National Library of Medicine®

MFRP

The information on this page was automatically extracted from online scientific databases.

What is the official name of the MFRP gene?

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.

What is the normal function of the MFRP gene?

From NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/83552):

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]

From UniProt (http://www.uniprot.org/uniprot/Q9BY79):

May play a role in eye development.

How are changes in the MFRP gene related to health conditions?

Genetics Home Reference provides information about microphthalmia, which is associated with changes in the MFRP gene.
UniProt (http://www.uniprot.org/uniprot/Q9BY79) provides the following information about the MFRP gene's known or predicted involvement in human disease.

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.

NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/83552) lists the following diseases or traits (phenotypes) known or believed to be associated with changes in the MFRP gene.
  • Microphthalmia, isolated 5
  • Nanophthalmos 2
OMIM.org (http://omim.org/), a catalog designed for genetics professionals and researchers, provides the following information about the MFRP gene and its association with health conditions.
OMIM
Number
Title

Where is the MFRP gene located?

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.

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.

Where can I find additional information about MFRP?

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.

What other names do people use for the MFRP gene or gene products?

  • MCOP5
  • NNO2
  • RD6

See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What glossary definitions help with understanding MFRP?

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.

 
Published: January 27, 2015