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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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PRSS56
serine protease 56
Chromosome 2 · 2q37.1
NCBI Gene: 646960Ensembl: ENSG00000237412.7HGNC: HGNC:39433UniProt: P0CW18
24PubMed Papers
21Diseases
0Drugs
24Pathogenic Variants
FUNCTIONAL ROLE
Protease
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
camera-type eye developmentproteolysisblood coagulationserine-type endopeptidase activityIsolated anophthalmia - microphthalmiamicrophthalmiamyopiarefractive error
✦AI Summary

PRSS56 encodes a trypsin-like serine protease required for normal eye development 1. During ocular morphogenesis, PRSS56 is expressed by Müller glia in the retina 2 and functions as a serine-type endopeptidase involved in proteolytic processes critical for establishing proper eye size and posterior segment development 3. The gene regulates scleral remodeling and myosin-4 abundance, directly controlling axial length elongation 1. PRSS56 mutations cause nanophthalmos and posterior microphthalmia, characterized by shortened axial length and extreme hyperopia 34. Notably, noncoding PRSS56 promoter variants increase expression through enhanced EGR1 transcription factor binding, causing high myopia with excessive axial elongation 1. Among nanophthalmos patients, PRSS56 variants (47.6% of cases) associate with severe uveal effusion and angle-closure glaucoma, the latter occurring in 79.1% of affected patients 45. PRSS56 emerges as a therapeutic target for juvenile high myopia, as short-wave light exposure reduces expression and attenuates axial elongation 1. The gene's dysregulation demonstrates bidirectional effects on eye size—loss-of-function causes microphthalmia while increased expression drives myopic elongation—highlighting PRSS56's central role in eye size determination.

Sources cited
1
PRSS56 encodes a trypsin-like serine protease; noncoding variants increase expression via EGR1 binding; increased PRSS56 expression causes high myopia by reducing scleral myosin-4 and promoting axial elongation; represents therapeutic target for myopia
PMID: 41917313
2
PRSS56 expressed by Müller glia in retina; upregulation associated with eye development disruption; link between MFRP deficiency and PRSS56 upregulation influences postnatal posterior eye development
PMID: 25357075
3
PRSS56 mutations cause posterior microphthalmia characterized by short axial length and elevated lens/eye volume ratio; c.1059_1066insC identified as founder mutation in Tunisian families
PMID: 23820083
4
PRSS56 variants account for 47.6% of nanophthalmos cases; associated with shorter axial length, uveal effusion, angle-closure glaucoma (79.1% of patients); null variants increase glaucoma susceptibility
PMID: 38749530
5
PRSS56 among three major genes (60.5% of Chinese nanophthalmos cohort); c.1066dupC most frequent variant; null variants increase angle-closure glaucoma development; patients with PRSS56 variants have shorter axial lengths
PMID: 39569896
6
PRSS56 frameshift variants cause nanophthalmos in Japanese patients; axial length approximately 15.69mm; associated with uveal effusion syndrome
PMID: 37501562
7
PRSS56 interacts with other genes in primary congenital glaucoma pathogenesis; variants interact with CYP1B1, LTBP2, and TEK contributing to genetic complexity of PCG
PMID: 39337513
Disease Associationsⓘ21
Isolated anophthalmia - microphthalmiaOpen Targets
0.79Strong
microphthalmiaOpen Targets
0.64Moderate
myopiaOpen Targets
0.51Moderate
refractive errorOpen Targets
0.48Moderate
HypermetropiaOpen Targets
0.46Moderate
nanophthalmiaOpen Targets
0.44Moderate
Abnormality of refractionOpen Targets
0.33Weak
Progressive visual lossOpen Targets
0.32Weak
eye diseaseOpen Targets
0.30Weak
neurodegenerative diseaseOpen Targets
0.27Weak
joint diseaseOpen Targets
0.23Weak
genetic disorderOpen Targets
0.19Weak
colorectal carcinomaOpen Targets
0.07Suggestive
nanophthalmos 2Open Targets
0.07Suggestive
isolated microphthalmia 7Open Targets
0.07Suggestive
Griscelli diseaseOpen Targets
0.07Suggestive
Griscelli disease type 3Open Targets
0.06Suggestive
Griscelli syndrome type 3Open Targets
0.06Suggestive
microphthalmia, isolated, with colobomaOpen Targets
0.06Suggestive
gastric cancerOpen Targets
0.05Suggestive
Microphthalmia, isolated, 6UniProt
Pathogenic Variants24
NM_001195129.2(PRSS56):c.1066dup (p.Gln356fs)Pathogenic
Isolated microphthalmia 6|not provided|Nanophthalmia|PRSS56-related disorder
★★☆☆2026→ Residue 356
NM_001195129.2(PRSS56):c.1066del (p.Gln356fs)Pathogenic
Isolated microphthalmia 6
★★☆☆2025→ Residue 356
NM_001195129.2(PRSS56):c.970C>T (p.Arg324Cys)Likely pathogenic
Isolated microphthalmia 6
★☆☆☆2026→ Residue 324
NM_001195129.2(PRSS56):c.69C>A (p.Tyr23Ter)Pathogenic
Nanophthalmia
★☆☆☆2025→ Residue 23
NM_001195129.2(PRSS56):c.649del (p.Gln217fs)Pathogenic
Isolated microphthalmia 6
★☆☆☆2025→ Residue 217
NM_001195129.2(PRSS56):c.958G>A (p.Gly320Arg)Likely pathogenic
Isolated microphthalmia 6
★☆☆☆2025→ Residue 320
NM_001195129.2(PRSS56):c.1186G>A (p.Glu396Lys)Likely pathogenic
Isolated microphthalmia 6|Ovarian serous cystadenocarcinoma
★☆☆☆2025→ Residue 396
NM_001195129.2(PRSS56):c.632G>C (p.Cys211Ser)Likely pathogenic
Isolated microphthalmia 6
★☆☆☆2025→ Residue 211
NM_001195129.2(PRSS56):c.320G>T (p.Gly107Val)Likely pathogenic
Isolated microphthalmia 6
★☆☆☆2025→ Residue 107
NM_001195129.2(PRSS56):c.1258G>T (p.Gly420Ter)Pathogenic
Isolated microphthalmia 6
★☆☆☆2024→ Residue 420
NM_001195129.2(PRSS56):c.849+1G>TPathogenic
Isolated microphthalmia 6
★☆☆☆2024
NM_001195129.2(PRSS56):c.1555G>A (p.Gly519Arg)Likely pathogenic
Isolated microphthalmia 6
★☆☆☆2024→ Residue 519
NM_001195129.2(PRSS56):c.849+1G>CPathogenic
Isolated microphthalmia 6
★☆☆☆2024
NM_001195129.2(PRSS56):c.896dup (p.Pro299_Arg300insTer)Pathogenic
Isolated microphthalmia 6
★☆☆☆2023→ Residue 299
NM_001195129.2(PRSS56):c.353G>A (p.Trp118Ter)Pathogenic
Isolated microphthalmia 6
★☆☆☆2022→ Residue 118
NM_001195129.2(PRSS56):c.219del (p.Arg74fs)Pathogenic
Isolated microphthalmia 6
★☆☆☆2022→ Residue 74
NM_001195129.2(PRSS56):c.1573del (p.Val525fs)Pathogenic
Isolated microphthalmia 6
★☆☆☆2021→ Residue 525
NM_001195129.2(PRSS56):c.94del (p.Gln32fs)Likely pathogenic
Isolated microphthalmia 6
★☆☆☆2019→ Residue 32
NM_001195129.2(PRSS56):c.1202C>A (p.Ala401Glu)Pathogenic
Isolated microphthalmia 6
☆☆☆☆2019→ Residue 401
NM_001195129.2(PRSS56):c.926G>C (p.Trp309Ser)Pathogenic
Isolated microphthalmia 6
☆☆☆☆2011→ Residue 309
View on ClinVar ↗
Related Genes
TMEM98Protein interaction81%MFRPProtein interaction81%PRRG3Shared pathway67%PRRG4Shared pathway67%PROZShared pathway67%PRRG2Shared pathway67%
Tissue Expression6 tissues
Brain
100%
Ovary
12%
Heart
0%
Lung
0%
Bone Marrow
0%
Liver
0%
Gene Interaction Network
Click a node to explore
PRSS56TMEM98MFRPPRRG3PRRG4PROZPRRG2
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt P0CW18
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.11LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.88 [0.70–1.11]
RankingsWhere PRSS56 stands among ~20K protein-coding genes
  • #13,283of 20,598
    Most Researched24
  • #2,029of 5,498
    Most Pathogenic Variants24
  • #11,381of 17,882
    Most Constrained (LOEUF)1.11
Genes detectedPRSS56
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Gene profiling of postnatal Mfrprd6 mutant eyes reveals differential accumulation of Prss56, visual cycle and phototransduction mRNAs.
PMID: 25357075
PLoS One · 2014
1.00
2
Clinical features of patients with mutations in genes for nanophthalmos.
PMID: 38749530
Br J Ophthalmol · 2024
0.90
3
MEK-SHP2 inhibition prevents tibial pseudarthrosis caused by
PMID: 38924432
Sci Transl Med · 2024
0.80
4
Posterior microphthalmia and nanophthalmia in Tunisia caused by a founder c.1059_1066insC mutation of the PRSS56 gene.
PMID: 23820083
Gene · 2013
0.70
5
Pathogenic variants of
PMID: 37501562
Ophthalmic Genet · 2023
0.60