PRSS56

Summary

Gene Symbol: PRSS56
Description: protease, serine, 56
Alias: MCOP6
Species: human

Top Publications

  1. ncbi Autosomal-recessive posterior microphthalmos is caused by mutations in PRSS56, a gene encoding a trypsin-like serine protease
    Andreas Gal
    Institut fur Humangenetik, Universitatsklinikum Hamburg Eppendorf, Hamburg, Germany
    Am J Hum Genet 88:382-90. 2011
  2. ncbi Alteration of the serine protease PRSS56 causes angle-closure glaucoma in mice and posterior microphthalmia in humans and mice
    K Saidas Nair
    Howard Hughes Medical Institute, The Jackson Laboratory, Bar Harbor, Maine, USA
    Nat Genet 43:579-84. 2011
  3. ncbi Mutations in a novel serine protease PRSS56 in families with nanophthalmos
    Andrew Orr
    Department of Ophthalmology and Visual Sciences, Dalhousie University, Halifax, Nova Scotia, Canada
    Mol Vis 17:1850-61. 2011

Scientific Experts

  • Andreas Gal
  • Andrew Orr
  • K Saidas Nair
  • Ioan M Cosma
  • Gareth R Howell
  • Hammadi Ayadi
  • Richard S Smith
  • Zain Ali
  • Mounira Hmani-Aifa
  • Zeineb Benzina
  • Alison L Kearney
  • Peter Söderkvist
  • Danilo G Macalinao
  • Bochra Hakim
  • Simon W M John
  • Salma Ben Salem
  • Ileana Soto
  • Walid Bouassida

Detail Information

Publications3

  1. ncbi Autosomal-recessive posterior microphthalmos is caused by mutations in PRSS56, a gene encoding a trypsin-like serine protease
    Andreas Gal
    Institut fur Humangenetik, Universitatsklinikum Hamburg Eppendorf, Hamburg, Germany
    Am J Hum Genet 88:382-90. 2011
    ..1 in two large Faroese families. We detected three different mutations in PRSS56. Patients of the Faroese families were either homozygous for c.926G>C (p.Trp309Ser) or compound heterozygous for c...
  2. ncbi Alteration of the serine protease PRSS56 causes angle-closure glaucoma in mice and posterior microphthalmia in humans and mice
    K Saidas Nair
    Howard Hughes Medical Institute, The Jackson Laboratory, Bar Harbor, Maine, USA
    Nat Genet 43:579-84. 2011
    ..Here we show that genetic alteration of a previously unidentified serine protease (PRSS56) alters axial length and causes a mouse phenotype resembling ACG...
  3. ncbi Mutations in a novel serine protease PRSS56 in families with nanophthalmos
    Andrew Orr
    Department of Ophthalmology and Visual Sciences, Dalhousie University, Halifax, Nova Scotia, Canada
    Mol Vis 17:1850-61. 2011
    ..Identification of additional genes for nanophthalmos will improve our understanding of normal developmental regulation of eye growth...