PRSS56

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.

Read more about gene names and symbols on the About page.

Genetics Home Reference provides information about microphthalmia, which is associated with changes in the PRSS56 gene.

UniProt provides the following information about the PRSS56 gene's known or predicted involvement in human disease.

Microphthalmia, isolated, 6 (MCOP6)^[1]: 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. Note=The disease is caused by mutations affecting the gene represented in this entry.

Entrez Gene lists the following diseases or traits (phenotypes) known or believed to be associated with changes in the PRSS56 gene.

• Microphthalmia, isolated 6^[1]

UniProt and Entrez Gene cite these articles in OMIM, a catalog designed for genetics professionals and researchers that provides detailed information about genetic conditions and genes.

	Article Number	Main Topic
[1]	613517	MICROPHTHALMIA, ISOLATED 6
	613858	PROTEASE, SERINE, 56

Cytogenetic Location: 2q37.1

Molecular Location on chromosome 2: base pairs 233,385,172 to 233,390,425

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 233,385,172 to base pair 233,390,425 on chromosome 2.

See How do geneticists indicate the location of a gene? in the Handbook.

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

• OMIM - Genetic disorder catalog
  • MICROPHTHALMIA, ISOLATED 6
  • PROTEASE, SERINE, 56
• Research Resources - Tools for researchers
  • Entrez Gene
  • GeneCards
  • HUGO Gene Nomenclature Committee
  • UniProt

The Handbook provides basic information about genetics in clear language.

• What is DNA?
• What is a gene?
• How do genes direct the production of proteins?
• How can gene mutations affect health and development?

These links provide additional genetics resources that may be useful.

• Genetics education
• Human Genome Project
• Resources for Genetic Researchers

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

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.

See also Understanding Medical Terminology.