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

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

rs111033578 in MFRP;C1QTNF5 gene and LATE-ONSET RETINAL DEGENERATION (disorder) PMID 22892318 2012 Crystal structure of the globular domain of C1QTNF5: Implications for late-onset retinal macular degeneration.

PMID 12944416 2003 Here we show that L-ORD is genetically heterogeneous and that a proposed founder mutation in the CTRP5 (C1QTNF5) gene, which encodes a novel short-chain collagen, changes a highly conserved serine to arginine (Ser163Arg) in 7/14 L-ORD families and 0/1000 control individuals.

rs4639950 in MFRP;C1QTNF5 gene and Longevity PMID 25918517 2015 Genetics of aging, health, and survival: dynamic regulation of human longevity related traits.

rs797045054 in MFRP;C1QTNF5 gene and Microphthalmia, Posterior, With Retinitis Pigmentosa, Foveoschisis, And Optic Disc Drusen PMID 26633545 2016 Molecular diagnostic experience of whole-exome sequencing in adult patients.