Gene: PRSS56

Alternate names for this Gene: MCOP6

Gene Summary: This gene encodes a protein that contains a peptidase S1 domain and possesses trypsin-like serine protease activity. The encoded protein may play a role in eye development, and mutations in this gene are a cause of autosomal recessive posterior microphthalmos.

Gene is located in Chromosome: 2

Location in Chromosome : 2q37.1

Description of this Gene: serine protease 56

Type of Gene: protein-coding

rs387907095 in PRSS56 gene and MICROPHTHALMIA, ISOLATED 6 PMID 21397065 2011 Autosomal-recessive posterior microphthalmos is caused by mutations in PRSS56, a gene encoding a trypsin-like serine protease.

PMID 21532570 2011 Alteration of the serine protease PRSS56 causes angle-closure glaucoma in mice and posterior microphthalmia in humans and mice.

PMID 21850159 2011 Mutations in a novel serine protease PRSS56 in families with nanophthalmos.

rs1550094 in PRSS56 gene and Myopia PMID 27182965 2016 Detection and interpretation of shared genetic influences on 42 human traits.