TMPRSS3

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Transmembrane protease, serine 3
Identifiers
Symbols TMPRSS3 ; DFNB10; DFNB8; ECHOS1; TADG12
External IDs OMIM605511 MGI2155445 HomoloGene56985 GeneCards: TMPRSS3 Gene
EC number 3.4.21.-
RNA expression pattern
PBB GE TMPRSS3 220177 s at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 64699 140765
Ensembl ENSG00000160183 ENSMUSG00000024034
UniProt P57727 Q8K1T0
RefSeq (mRNA) NM_001256317 NM_001163776
RefSeq (protein) NP_001243246 NP_001157248
Location (UCSC) Chr 21:
43.79 – 43.82 Mb
Chr 17:
31.18 – 31.2 Mb
PubMed search [1] [2]

Transmembrane protease, serine 3 is an enzyme that in humans is encoded by the TMPRSS3 gene.[1][2][3]

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.[3]

References[edit]

  1. ^ 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. 
  2. ^ 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. 
  3. ^ a b "Entrez Gene: TMPRSS3 transmembrane protease, serine 3". 

Further reading[edit]