Gene: C1QTNF5

Alternate names for this Gene: CTRP5|MFRP

Gene Summary: This gene encodes a member of a family of proteins that function as components of basement membranes and may play a role in cell adhesion. Mutations in this gene have been associated with late-onset retinal degeneration. The protein may be encoded by either a bicistronic transcript including sequence from the upstream membrane frizzled-related protein gene (MFRP), or by a monocistronic transcript expressed from an internal promoter.

Gene is located in Chromosome: 11

Location in Chromosome : 11q23.3

Description of this Gene: C1q and TNF related 5

Type of Gene: protein-coding

Gene: MFRP

Alternate names for this Gene: CTRP5|MCOP5|NNO2|RD6

Gene Summary: 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).

Gene is located in Chromosome: 11

Location in Chromosome : 11q23.3

Description of this Gene: membrane frizzled-related protein

Type of Gene: protein-coding

rs730882143 in C1QTNF5;MFRP gene and Microphthalmia, Posterior, With Retinitis Pigmentosa, Foveoschisis, And Optic Disc Drusen PMID 23742260 2014 Novel membrane frizzled-related protein gene mutation as cause of posterior microphthalmia resulting in high hyperopia with macular folds.

PMID 20361016 2010 A detailed phenotypic assessment of individuals affected by MFRP-related oculopathy.

rs121908190 in C1QTNF5;MFRP gene and NANOPHTHALMOS 2 (disorder) PMID 15976030 2005 Extreme hyperopia is the result of null mutations in MFRP, which encodes a Frizzled-related protein.

rs883245 in C1QTNF5;MFRP gene and Tonometry PMID 30054594 2018 Genome-wide association study of intraocular pressure uncovers new pathways to glaucoma.