TMPRSS3

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TMPRSS3
Identifiers
Aliases TMPRSS3, DFNB10, DFNB8, ECHOS1, TADG12, transmembrane protease, serine 3
External IDs MGI: 2155445 HomoloGene: 56985 GeneCards: TMPRSS3
RNA expression pattern
PBB GE TMPRSS3 220177 s at fs.png
More reference expression data
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001256317
NM_024022
NM_032401
NM_032404
NM_032405

NM_001163776
NM_080727

RefSeq (protein)

NP_001243246
NP_076927
NP_115780
NP_115781

NP_542765.2
NP_001157248
NP_542765

Location (UCSC) Chr 21: 42.37 – 42.4 Mb Chr 17: 31.18 – 31.2 Mb
PubMed search [1] [2]
Wikidata
View/Edit Human View/Edit Mouse

Transmembrane protease, serine 3 is an enzyme that in humans is encoded by the TMPRSS3 gene.[3][4][5]

Function[edit]

This gene encodes a member of the serine protease family. The encoded protein contains a serine protease domain, a transmembrane domain, an LDL receptor-like 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.[5]

References[edit]

  1. ^ "Human PubMed Reference:". 
  2. ^ "Mouse PubMed Reference:". 
  3. ^ Masmoudi S, Antonarakis SE, Schwede T, Ghorbel AM, Gratri M, Pappasavas MP, Drira M, Elgaied-Boulila A, Wattenhofer M, Rossier C, Scott HS, Ayadi H, Guipponi M (Jul 2001). "Novel missense mutations of TMPRSS3 in two consanguineous Tunisian families with non-syndromic autosomal recessive deafness". Hum Mutat. 18 (2): 101–8. doi:10.1002/humu.1159. PMID 11462234. 
  4. ^ 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. PMID 11907649. 
  5. ^ a b "Entrez Gene: TMPRSS3 transmembrane protease, serine 3". 

Further reading[edit]