Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 646960
MIM: 613858
HGNC: 39433
Ensembl: ENSG00000237412
Variants:
dbSNP: 646960
ClinVar: 646960
TCGA: ENSG00000237412
COSMIC: PRSS56
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000237412 | ENST00000617714 | P0CW18 |
Expression (GTEx)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37501562 | 2023 | Pathogenic variants of MFRP and PRSS56 genes are major causes of nanophthalmos in Japanese patients. | 0 |
| 37501562 | 2023 | Pathogenic variants of MFRP and PRSS56 genes are major causes of nanophthalmos in Japanese patients. | 0 |
| 31992737 | 2020 | The majority of autosomal recessive nanophthalmos and posterior microphthalmia can be attributed to biallelic sequence and structural variants in MFRP and PRSS56. | 12 |
| 32052405 | 2020 | The genetic and clinical landscape of nanophthalmos and posterior microphthalmos in an Australian cohort. | 10 |
| 32118495 | 2020 | Novel mutations in MFRP and PRSS56 are associated with posterior microphthalmos. | 6 |
| 32152063 | 2020 | Loss of PRSS56 function leads to ocular angle defects and increased susceptibility to high intraocular pressure. | 9 |
| 33203948 | 2020 | Novel TMEM98, MFRP, PRSS56 variants in a large United States high hyperopia and nanophthalmos cohort. | 8 |
| 31992737 | 2020 | The majority of autosomal recessive nanophthalmos and posterior microphthalmia can be attributed to biallelic sequence and structural variants in MFRP and PRSS56. | 12 |
| 32052405 | 2020 | The genetic and clinical landscape of nanophthalmos and posterior microphthalmos in an Australian cohort. | 10 |
| 32118495 | 2020 | Novel mutations in MFRP and PRSS56 are associated with posterior microphthalmos. | 6 |
| 32152063 | 2020 | Loss of PRSS56 function leads to ocular angle defects and increased susceptibility to high intraocular pressure. | 9 |
| 33203948 | 2020 | Novel TMEM98, MFRP, PRSS56 variants in a large United States high hyperopia and nanophthalmos cohort. | 8 |
| 31266062 | 2019 | Detection of Clinically Relevant Genetic Variants in Chinese Patients With Nanophthalmos by Trio-Based Whole-Genome Sequencing Study. | 15 |
| 31266062 | 2019 | Detection of Clinically Relevant Genetic Variants in Chinese Patients With Nanophthalmos by Trio-Based Whole-Genome Sequencing Study. | 15 |
| 23127749 | 2013 | Biometric and molecular characterization of clinically diagnosed posterior microphthalmos. | 20 |
Citation
Dessen P
PRSS56 (serine protease 56)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/72318/prss56-(serine-protease-56)
