GENE NAME | PRPH2 |
CHROMOSOME | 6 |
ENSEMBL ID | ENSG00000112619 |
ENTREZ ID | 5961 |
UNIPROT ACCESSION NUMBER | P23942 |
GO MOLECULAR FUNCTION | protein homodimerization activity; protein binding |
ESSENTIAL IN MOUSE | Non-essential |
PATHWAYS | |
2 combinations linked to PRPH2 | OLI223; OLI222 |
1 variant linked to PRPH2 | PRPH2:c.554T>C, p.Leu185Pro |
1 disease linked to PRPH2 | Retinitis pigmentosa |