| PRSS56 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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| Aliases | PRSS56 , MCOP6, protease, serine 56, serine protease 56 | ||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 613858 MGI: 1916703 HomoloGene: 79885 GeneCards: PRSS56 | ||||||||||||||||||||||||||||||||||||||||||||||||||
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| Wikidata | |||||||||||||||||||||||||||||||||||||||||||||||||||
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Putative Serine Protease 56 (PRSS56) is a serine protease that in humans is encoded by the PRSS56 gene. This protein has been implicated in human eye development.
The gene is located on long arm of chromosome 2 (2q37.1). The encoded protein is 603 amino acid residues in length with a predicted molecular weight of 64 597 Daltons.
The protein contains a peptidase S1 domain and possesses trypsin like serine protease activity.
Mutations in this gene are a cause of autosomal recessive posterior microphthalmos. [5] [6] [7] The clinical features of this condition include extreme hyperopia due to short axial length with essentially normal anterior segment, steep corneal curvatures, shallow anterior chamber, thick lenses and thickened scleral walls. The 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 discs, tortuous vessels and an abnormal foveal avascular zone.
Mice homozygous for an ENU induced mutation show increased intraocular pressure, reduction in eye axial length, and narrow iridocorneal angles. Eyes from individuals with angle-closure glaucoma (ACG) often have a modestly decreased axial length, shallow anterior chamber and relatively large lens, features that predispose to angle closure. Homozygous mice model ACG. [6]
Enteropeptidase is an enzyme produced by cells of the duodenum and is involved in digestion in humans and other animals. Enteropeptidase converts trypsinogen into its active form trypsin, resulting in the subsequent activation of pancreatic digestive enzymes. Absence of enteropeptidase results in intestinal digestion impairment.
Trypsin-1, also known as cationic trypsinogen, is a protein that in humans is encoded by the PRSS1 gene. Trypsin-1 is the main isoform of trypsinogen secreted by pancreas, the others are trypsin-2, and trypsin-3 (meso-trypsinogen).
Serine protease HTRA2, mitochondrial is an enzyme that in humans is encoded by the HTRA2 gene. This protein is involved in caspase-dependent apoptosis and in Parkinson's disease.
Kallikrein-6 is a protein that in humans is encoded by the KLK6 gene. Kallikrein-6 is also referred to as neurosin, protease M, hK6, or zyme. It is a 223 amino acid sequence, derived from its 244 original form, which contains a 16 residue presignal and 5 residue activation peptide.
Serine protease HTRA1 is an enzyme that in humans is encoded by the HTRA1 gene. The HTRA1 protein is composed of four distinct protein domains. They are from amino-terminus to carboxyl-terminus an Insulin-like growth factor binding domain, a kazal domain, a trypsin-like peptidase domain and a PDZ domain.
Lympho-epithelial Kazal-type-related inhibitor (LEKTI) also known as serine protease inhibitor Kazal-type 5 (SPINK5) is a protein that in humans is encoded by the SPINK5 gene.
Kallikrein-11 is a protein that in humans is encoded by the KLK11 gene.
Serine protease 23 is an enzyme that in humans is encoded by the PRSS23 gene.
Beta-1,3-N-acetylglucosaminyltransferase lunatic fringe, (Lunatic Fringe), is a protein encoded in humans by the LFNG gene.
Serine protease inhibitor Kazal-type 2 also known as acrosin-trypsin inhibitor is a protein that in humans is encoded by the SPINK2 gene.
Thymus-specific serine protease is an enzyme that in humans is encoded by the PRSS16 gene.
Brain-specific serine protease 4 (BSSP-4), also known as serine protease 22 or tryptase epsilon, is an enzyme that in humans is encoded by the PRSS22 gene.
Forkhead box protein E3 (FOXE3) also known as forkhead-related transcription factor 8 (FREAC-8) is a protein that in humans is encoded by the FOXE3 gene located on the short arm of chromosome 1.
Protease, serine, 2 is a protein that in humans is encoded by the PRSS2 gene.
Protease, serine, 3 is a protein that in humans is encoded by the PRSS3 gene.
Retinal homeobox protein Rx also known as retina and anterior neural fold homeobox is a protein that in humans is encoded by the RAX gene. The RAX gene is located on chromosome 18 in humans, mice, and rats.
Leucine rich transmembrane and O-methyltransferase domain containing is a protein that in humans is encoded by the LRTOMT gene.
Homeobox protein CDX-4 is a protein that in humans is encoded by the CDX4 gene. This gene is a member of the caudal-related homeobox transcription factor family that also includes CDX1 and CDX2.
Serine protease 55 is a protein that in humans is encoded by the PRSS55 gene.
Mounira Hmani Aifa is a Tunisian geneticist, best known for her work in mapping the PRSS56 gene. She has been a recipient of the "Sur les traces de Marie Curie" award from UNESCO and the L'Oreal Foundation in 2012, and a fellowship from them in 2002.
