Transmembrane protease, serine 3 is an
enzyme that in humans is encoded by the TMPRSS3gene.[5][6][7]
Function
This gene encodes a member of the
serine protease family. The encoded protein contains a serine protease domain, a
transmembrane domain, an
LDL receptor class A domain, and a
scavenger receptor cysteine-rich domain. Serine proteases are known to be involved in a variety of biological processes, whose malfunction often leads to human diseases and disorders. This gene was identified by its association with both congenital and childhood onset
autosomal recessive deafness. This gene is expressed in fetal
cochlea and many other tissues, and is thought to be involved in the development and maintenance of the
inner ear or the contents of the
perilymph and
endolymph. This gene was also identified as a
tumor associated gene that is overexpressed in
ovarian tumors. Four
alternatively spliced variants have been described, two of which encode identical products.[7]
^Wattenhofer M, Di Iorio MV, Rabionet R, Dougherty L, Pampanos A, Schwede T, Montserrat-Sentis B, Arbones ML, Iliades T, Pasquadibisceglie A, D'Amelio M, Alwan S, Rossier C, Dahl HH, Petersen MB, Estivill X, Gasparini P, Scott HS, Antonarakis SE (Mar 2002). "Mutations in the TMPRSS3 gene are a rare cause of childhood nonsyndromic deafness in Caucasian patients". J Mol Med. 80 (2): 124–31.
doi:
10.1007/s00109-001-0310-6.
PMID11907649.
S2CID8185405.
Transmembrane protease, serine 3 is an
enzyme that in humans is encoded by the TMPRSS3gene.[5][6][7]
Function
This gene encodes a member of the
serine protease family. The encoded protein contains a serine protease domain, a
transmembrane domain, an
LDL receptor class A domain, and a
scavenger receptor cysteine-rich domain. Serine proteases are known to be involved in a variety of biological processes, whose malfunction often leads to human diseases and disorders. This gene was identified by its association with both congenital and childhood onset
autosomal recessive deafness. This gene is expressed in fetal
cochlea and many other tissues, and is thought to be involved in the development and maintenance of the
inner ear or the contents of the
perilymph and
endolymph. This gene was also identified as a
tumor associated gene that is overexpressed in
ovarian tumors. Four
alternatively spliced variants have been described, two of which encode identical products.[7]
^Wattenhofer M, Di Iorio MV, Rabionet R, Dougherty L, Pampanos A, Schwede T, Montserrat-Sentis B, Arbones ML, Iliades T, Pasquadibisceglie A, D'Amelio M, Alwan S, Rossier C, Dahl HH, Petersen MB, Estivill X, Gasparini P, Scott HS, Antonarakis SE (Mar 2002). "Mutations in the TMPRSS3 gene are a rare cause of childhood nonsyndromic deafness in Caucasian patients". J Mol Med. 80 (2): 124–31.
doi:
10.1007/s00109-001-0310-6.
PMID11907649.
S2CID8185405.