| Entrez Gene ID | 83552 |
|---|---|
| Official Gene Symbol | MFRP (GeneCards) |
| Full name | membrane frizzled-related protein |
| Location | 11q23.3 |
| Other ids | Vega : OTTHUMG00000166199 MIM : 606227 HGNC : HGNC:18121 Ensembl : ENSG00000235718 |
| Other names | RD6, NNO2, MCOP5 |
| 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] |
Found 1 variant in this database.
| Variant ID | Entrez Gene ID | Gene | Chromsome | Start | End | Disease | Method |
|---|---|---|---|---|---|---|---|
| 29329 | 83552 | MFRP | 11 | 119216209 | 119216209 | Autism Spectrum Disorders | MiSeq |