Details for Gene PRPH2

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

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