PRSS56

Chr 2AR

serine protease 56

Also known as: MCOP6

NCBI Gene: 646960 ENSG00000237412 UniProt: P0CW18 OMIM: 613858

This gene encodes a serine protease with trypsin-like activity that is required for normal eye development. Mutations cause autosomal recessive isolated microphthalmia (microphthalmia 6), presenting as congenital underdevelopment of one or both eyes. The gene is not highly constrained against loss-of-function variants in the general population.

GeneReviews OMIM ResearchSummary from RefSeq, OMIM, UniProt

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. [provided by RefSeq, Dec 2011]

GeneReviews OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Microphthalmia, isolated 6MIM #613517

Clinical highlights

Gene-disease validity (ClinGen)

isolated microphthalmia 6 · ARDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.70

LOEUF

LOF

Mechanism· G2P

📖

GeneReview available — PRSS56