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Genetics Home Reference: your guide to understanding genetic conditions
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PRSS56

The information on this page was automatically extracted from online scientific databases.

What is the official name of the PRSS56 gene?

The official name of this gene is “protease, serine, 56.”

PRSS56 is the gene's official symbol. The PRSS56 gene is also known by other names, listed below.

What is the normal function of the PRSS56 gene?

From NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/646960):

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]

From UniProt (http://www.uniprot.org/uniprot/P0CW18):

Serine protease required during eye development.

How are changes in the PRSS56 gene related to health conditions?

Genetics Home Reference provides information about microphthalmia, which is associated with changes in the PRSS56 gene.
UniProt (http://www.uniprot.org/uniprot/P0CW18) provides the following information about the PRSS56 gene's known or predicted involvement in human disease.

Microphthalmia, isolated, 6 (MCOP6): A developmental ocular disorder characterized by small malformed eyes. Clinical features are extreme hyperopia due to short axial length with essentially normal anterior segment, steep corneal curvatures, shallow anterior chamber, thick lenses, and thickened scleral wall. Palpebral fissures appear narrow because of relatively deep-set eyes, visual acuity is mildly to moderately reduced, and anisometropic or strabismic amblyopia is common. The fundus of the eye shows crowded optical disks, tortuous vessels, and an abnormal foveal avascular zone. The disease is caused by mutations affecting the gene represented in this entry.

NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/646960) lists the following diseases or traits (phenotypes) known or believed to be associated with changes in the PRSS56 gene.
  • Microphthalmia, isolated 6
OMIM.org (http://omim.org/), a catalog designed for genetics professionals and researchers, provides the following information about the PRSS56 gene and its association with health conditions.
OMIM
Number
Title

Where is the PRSS56 gene located?

Cytogenetic Location: 2q37.1

Molecular Location on chromosome 2: base pairs 232,520,462 to 232,525,715

The PRSS56 gene is located on the long (q) arm of chromosome 2 at position 37.1.

The PRSS56 gene is located on the long (q) arm of chromosome 2 at position 37.1.

More precisely, the PRSS56 gene is located from base pair 232,520,462 to base pair 232,525,715 on chromosome 2.

See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.

Where can I find additional information about PRSS56?

You and your healthcare professional may find the following resources about PRSS56 helpful.

You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the PRSS56 gene or gene products?

  • MCOP6

See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What glossary definitions help with understanding PRSS56?

amblyopia ; anterior ; autosomal ; autosomal recessive ; domain ; fundus ; gene ; posterior ; protease ; protein ; recessive ; serine ; trypsin ; visual acuity

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://ghr.nlm.nih.gov/glossary).

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Published: December 16, 2014