MFRP gene

membrane frizzled-related protein

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

From NCBI Gene:

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:

May play a role in eye development.

Covered on Genetics Home Reference:

From NCBI Gene:

  • Microphthalmia, isolated 5
  • Nanophthalmos 2

From UniProt:

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. [MIM:611040]

Nanophthalmos 2 (NNO2): Rare autosomal recessive disorder of eye development characterized by extreme hyperopia and small functional eyes. [MIM:609549]

Cytogenetic Location: 11q23, which is the long (q) arm of chromosome 11 at position 23

Molecular Location: base pairs 119,338,934 to 119,346,673 on chromosome 11 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 11q23, which is the long (q) arm of chromosome 11 at position 23
  • MCOP5
  • NNO2
  • RD6