Details for Gene MPDZ

GENE NAME MPDZ
CHROMOSOME 9
ENSEMBL ID None
ENTREZ ID ENSG00000107186
UNIPROT ACCESSION NUMBER O75970
GO MOLECULAR FUNCTION ['protein C-terminus binding', 'protein binding']
ESSENTIAL IN MOUSE None
PATHWAYS hsa04530
6 combinations linked to MPDZ OLI1102; OLI1100; OLI1104; OLI1566; OLI1101; OLI1103
2 variants linked to MPDZ MPDZ:c.4124T>C, p.Val1375Ala; MPDZ:c.2344G>A, p.Gly782Arg
2 diseases linked to MPDZ Rare genetic deafness; Syndrome with 46,XY disorder of sex development

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