MFRP Antibody – Mouse Monoclonal

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]

MFRP: May play a role in eye development. Defects in MFRP are the cause of nanophthalmos 2 (NNO2). NNO2 is a rare autosomal recessive disorder of eye development characterized by extreme hyperopia and small functional eyes. Defects in MFRP are the cause of microphthalmia isolated type 5 (MCOP5). Microphthalmia is a clinically heterogeneous 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, cataract and other abnormalities like cataract may also be present. MCOP5 is characterized by posterior microphthalmia, retinitis pigmentosa, foveoschisis and optic disc drusen.

Protein type: Membrane protein, integral

Chromosomal Location of Human Ortholog: 11q23.3

Cellular Component: integral to membrane

Disease: Microphthalmia, Isolated 5; Nanophthalmos 2