myocilin
Última atualização 4 Apr 2022
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The MYOC gene provides instructions for producing a protein called myocilin. Myocilin is found in certain structures of the eye, called the trabecular meshwork and the ciliary body, that regulate the pressure within the eye (intraocular pressure). Myocilin's function is not well understood, but it may help to control the intraocular pressure through its action in the muscle tissue of the ciliary body.
Normal function
The MYOC gene provides instructions for producing a protein called myocilin. Myocilin is found in certain structures of the eye, called the trabecular meshwork and the ciliary body, that regulate the pressure within the eye (intraocular pressure). Myocilin's function is not well understood, but it may help to control the intraocular pressure through its action in the muscle tissue of the ciliary body.
Researchers believe that myocilin functions together with other proteins in the eye as part of the extracellular matrix, which is an intricate lattice that forms in the space between cells and provides structural support. Myocilin may interact with a number of other proteins that also function in the extracellular matrix.
Conditions referring to this gene or chromosome
Other names
GLC1A
GPOA
JOAG
JOAG1
MYOC_HUMAN
myocilin, trabecular meshwork inducible glucocorticoid response
TIGR
trabecular meshwork-induced glucocorticoid response protein
Leitura adicional e referências
- myocilin; MedlinePlus, National Library of Medicine.
- Bayat B, Yazdani S, Alavi A, Chiani M, Chitsazian F, Tusi BK, Suri F, Narooie-Nejhad M, Sanati MH, Elahi E. Contributions of MYOC and CYP1B1 mutations to JOAG. Mol Vis. 2008 Mar 13;14:508-17.
- Chen Y, Jiang D, Yu L, Katz B, Zhang K, Wan B, Sun X. CYP1B1 and MYOC mutations in 116 Chinese patients with primary congenital glaucoma. Arch Ophthalmol. 2008 Oct;126(10):1443-7. doi: 10.1001/archopht.126.10.1443.
- Kaur K, Reddy AB, Mukhopadhyay A, Mandal AK, Hasnain SE, Ray K, Thomas R, Balasubramanian D, Chakrabarti S. Myocilin gene implicated in primary congenital glaucoma. Clin Genet. 2005 Apr;67(4):335-40. doi: 10.1111/j.1399-0004.2005.00411.x.
- Polansky JR. Current perspectives on the TIGR/MYOC gene (Myocilin) and glaucoma. Ophthalmol Clin North Am. 2003 Dec;16(4):515-27, v-vi. doi: 10.1016/s0896-1549(03)00068-3.
- Scelsi HF, Barlow BM, Saccuzzo EG, Lieberman RL. Common and rare myocilin variants: Predicting glaucoma pathogenicity based on genetics, clinical, and laboratory misfolding data. Hum Mutat. 2021 Aug;42(8):903-946. doi: 10.1002/humu.24238. Epub 2021 Jun 24.
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