MFRP
Developmental stage
Expressed in fetal brain.
Function
May play a role in eye development.
Involvement in disease
Nanophthalmos 2
NNO2
Rare autosomal recessive disorder of eye development characterized by extreme hyperopia and small functional eyes.
None
The disease is caused by variants 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.
None
The disease is caused by variants affecting the gene represented in this entry.
Tissue Specificity
Specifically expressed in brain. Strongly expressed in medulla oblongata and to a lower extent in hippocampus and corpus callosum. Expressed in keratinocytes.
Cellular localization
- Apical cell membrane
- Single-pass type II membrane protein
Alternative names
Membrane frizzled-related protein, Membrane-type frizzled-related protein, MFRP