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 |