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tisdag 13 november 2018

MUC20 (3q29) , MUC-20, corneal, conjunctival mucin-20

https://www.ncbi.nlm.nih.gov/gene/200958
Also known as
MUC-20
Summary
This gene encodes a member of the mucin protein family. Mucins are high molecular weight glycoproteins secreted by many epithelial tissues to form an insoluble mucous barrier. The C-terminus of this family member associates with the multifunctional docking site of the MET proto-oncogene and suppresses activation of some downstream MET signaling cascades. The protein features a mucin tandem repeat domain that varies between two and six copies in most individuals. Multiple variants encoding different isoforms have been found for this gene. A related pseudogene, which is also located on chromosome 3, has been identified. [provided by RefSeq, Apr 2014]
Expression
Broad expression in gall bladder (RPKM 28.1), colon (RPKM 25.9) and 17 other tissues See more

Related articles in PubMed

 GeneRif
 MUC20  structure:
 Conserved domainPHA3247 large tegument protein UL36 
 https://www.ncbi.nlm.nih.gov/protein/NP_001278762.1

  • Tämä korneaalinen konjunktivaalinen musiin MUC20 ei esiinny kyynelnesteessä. Kyynelnesteen musiini  (lakrimaalinen  muc) on toinen:MUC5AC
2018 Oct 14;2018:1061276. doi: 10.1155/2018/1061276. eCollection 2018. Tear Ferning Test and Pathological Effects on Ocular Surface before and after Topical Cyclosporine in Vernal Keratoconjunctivitis Patients. Nebbioso M1, Sacchetti M1, Bianchi G1, Zicari AM2, Duse M2, Del Regno P1, Lambiase A1. Abstract Background:
Vernal keratoconjunctivitis (VKC) is a rare ocular surface inflammatory disease that affects mainly boys in the first decade of life. Clinical observations show that it generally regresses spontaneously with the onset of puberty, but therapeutic measures must be taken before then to control the course of the disease. Purpose:
To evaluate the role of the lacrimal mucous component in VKC patients and compare tear ferning test (TFT) modifications, MUC5AC levels in tears, and density of conjunctival goblet cells to clinical characteristics before and after treatment with cyclosporine A (CY) in eye drops.  Methods:
Forty-seven patients affected by VKC and 30 healthy subjects aged between 3 and 16 years of life were enrolled. All individuals were submitted to complete eye examination and skin prick test (SPT) for the most common allergens. Then, they were subjected to collection of the tears and to impression cytology to evaluate TFT, MUC5AC levels, and conjunctival goblet cell density, before and after treatment with CY in eye drops.  Results:
Comparing the VKC group vs. the control group at baseline, a significant alteration in the degree of the ferns was found, indicating a pathological condition of the lacrimal mucous layer. In addition, an increased number of goblet cells were observed in the patients. The concentration of lacrimal secretory mucins (MUC5AC) did not show significant differences between the 2 groups. Patients treated with CY have reported improvements of some signs and symptoms of disease activity, including TFT, and a tendency of conjunctival goblet cell density to normalise. Conclusions:
The results obtained demonstrated for the first time a significant alteration of the lacrimal mucin component evaluated in the VKC group, and an improvement of the latter after CY therapy. PMID:30405906PMCID:PMC6204206 DOI: 10.1155/2018/1061276

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