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: 4653
MIM: 601652
HGNC: 7610
Ensembl: ENSG00000034971
Variants:
dbSNP: 4653
ClinVar: 4653
TCGA: ENSG00000034971
COSMIC: MYOC
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000034971 | ENST00000037502 | Q99972 |
| ENSG00000034971 | ENST00000037502 | A0A0S2Z421 |
| ENSG00000034971 | ENST00000638471 | A0A1W2PP09 |
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 34526297 | 2023 | CYP1B1 and MYOC variants in neonatal-onset versus infantile-onset primary congenital glaucoma. | 3 |
| 36069958 | 2023 | Human Pro370Leu Mutant Myocilin Induces the Phenotype of Open-Angle Glaucoma in Transgenic Mice. | 5 |
| 36834493 | 2023 | COBL, MKX and MYOC Are Potential Regulators of Brown Adipose Tissue Development Associated with Obesity-Related Metabolic Dysfunction in Children. | 1 |
| 37217093 | 2023 | Myocilin misfolding and glaucoma: A 20-year update. | 2 |
| 37247815 | 2023 | Variable phenotypic expression of MYOC mutations in a family with inherited pediatric glaucoma. | 0 |
| 34526297 | 2023 | CYP1B1 and MYOC variants in neonatal-onset versus infantile-onset primary congenital glaucoma. | 3 |
| 36069958 | 2023 | Human Pro370Leu Mutant Myocilin Induces the Phenotype of Open-Angle Glaucoma in Transgenic Mice. | 5 |
| 36834493 | 2023 | COBL, MKX and MYOC Are Potential Regulators of Brown Adipose Tissue Development Associated with Obesity-Related Metabolic Dysfunction in Children. | 1 |
| 37217093 | 2023 | Myocilin misfolding and glaucoma: A 20-year update. | 2 |
| 37247815 | 2023 | Variable phenotypic expression of MYOC mutations in a family with inherited pediatric glaucoma. | 0 |
| 35014583 | 2022 | Penetrance of MYOC gene mutation in primary open-angle glaucoma: A systematic review and meta-analysis. | 1 |
| 35014583 | 2022 | Penetrance of MYOC gene mutation in primary open-angle glaucoma: A systematic review and meta-analysis. | 1 |
| 32300215 | 2021 | The mutational spectrum of Myocilin gene among familial versus sporadic cases of Juvenile onset open angle glaucoma. | 8 |
| 33421356 | 2021 | Prevalence of MYOC risk variants for glaucoma in different populations. | 7 |
| 33539326 | 2021 | Autophagy stimulation reduces ocular hypertension in a murine glaucoma model via autophagic degradation of mutant myocilin. | 28 |
Citation
Dessen P
MYOC (myocilin)
Atlas Genet Cytogenet Oncol Haematol. 2007-04-01
Online version: http://atlasgeneticsoncology.org/gene/46782/myoc
