GENE NAME | TMPRSS3 |
CHROMOSOME | 21 |
ENSEMBL ID | ENSG00000160183 |
ENTREZ ID | 64699 |
UNIPROT ACCESSION NUMBER | P57727 |
GO MOLECULAR FUNCTION | sodium channel regulator activity; scavenger receptor activity; serine-type endopeptidase activity; hydrolase activity; peptidase activity; serine-type peptidase activity |
ESSENTIAL IN MOUSE | Non-essential |
PATHWAYS | |
2 combinations linked to TMPRSS3 | OLI060; OLI013 |
3 variants linked to TMPRSS3 | TMPRSS3:c.895G>A, p.Ala299Thr; TMPRSS3:c.208delC, p.His70ThrfsTer19; TMPRSS3:c.579dupA, p.Cys194MetfsTer17 |
1 disease linked to TMPRSS3 | Non-syndromic genetic deafness |