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. [fFromRefSeq]
Located on the long arm of chromosome 2, the PRSS56 gene spans a length of about 5 kb. Its coding sequence is made up of 13 exons. The protein encoded by the gene is made up of 603 amino acids and is approximately 64 kDa in size. The protein is made up of three domains: an N terminal signal peptide, a central serine protease domain, and a C-terminal conserved domain.
More than a dozen PRSS56 mutations, both homozygous and compound heterozygous, have been linked to microphthalmia, isolated 6. Of these, truncating mutations have been shown to result in a more severe phenotype compared to missense mutations.
