Details for Gene TMPRSS3

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 OLI013; OLI060
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

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