Details for Gene PDZD7

GENE NAME PDZD7
CHROMOSOME 10
ENSEMBL ID ENSG00000186862
ENTREZ ID 79955
UNIPROT ACCESSION NUMBER Q9H5P4
GO MOLECULAR FUNCTION protein binding; identical protein binding
ESSENTIAL IN MOUSE None
PATHWAYS
5 combinations linked to PDZD7 OLI122; OLI120; OLI552; OLI254; OLI121
5 variants linked to PDZD7 PDZD7:c.166dup, p.Arg56ProfsTer24; PDZD7:c.1750-2A>G, ; PDZD7:c.2194_2203del, p.Cys732LeufsTer18; PDZD7:c.76_77del, p.Ser26LeufsTer53; PDZD7:c.1543C>T, p.Gln515Ter
3 diseases linked to PDZD7 Usher syndrome type 2; Non-syndromic genetic deafness; Retinitis pigmentosa

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