Gene Symbol | MFRP |
Entrez Gene ID | 83552 |
Full Name | membrane frizzled-related protein |
Synonyms | MCOP5,NNO2,RD6 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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). [provided by RefSeq, Jun 2013]. |
Disorder MIM: | |
Disorder Html: | Microphthalmia, isolated 5, 611040 (3); Nanophthalmos 2, 609549 (3) |