OPTC - opticin Gene
Also Known as OPT
Species: Homo sapiens
About OPTC
This gene has 2 transcripts (splice variants), 111 orthologues and 1 paralogue. Low expression observed in reference dataset.
Summary
Opticin belongs to class III of the small leucine-rich repeat protein (SLRP) family. Members of this family are typically associated with the extracellular matrix. Opticin is present in significant quantities in the vitreous of the eye and also localizes to the cornea, iris, ciliary body, optic nerve, choroid, retina, and fetal liver. Opticin may noncovalently bind Collagen fibrils and regulate fibril morphology, spacing, and organization. The opticin gene is mapped to a region of chromosome 1 that is associated with the inherited eye diseases age-related macular degeneration (AMD) and posterior column ataxia with retinosa pigmentosa (AXPC1). [provided by RefSeq, Jul 2008]
OPTC Products (1)
| mRNA | Protein | Name |
|---|---|---|
| NM_014359.4 | NP_055174.1 | opticin precursor |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in extracellular matrix |
IDA
IDA: Inferred from direct assay
|
18164633 | GOA |
OPTC Protein Structure
LRR_8: Leucine rich repeat (157 - 213)
- 0
- 100
- 200
- 300
- 332 a.a.
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
opticin |
|
Related Diseases
| Diseases | Alias | |
|---|---|---|
| Posterior Column Ataxia |
|
|
| Open-Angle Glaucoma |
|
|
| Macular Degeneration, Age-Related, 1 |
|
|
| Vitreous Detachment |
|
|
| Vitreoretinal Dystrophy |
|
|
| Retinal Perforation |
|
|
| Vitreous Syneresis |
|
|
| Vitreous Disease |
|
|
| Cornea Plana |
|
|
| Macular Holes |
|
|
| Myopia |
|
|
| Optic Disk Drusen |
|
|
| Glaucoma, Normal Tension |
|
|
| Stickler Syndrome |
|
|
| Glaucoma, Primary Open Angle |
|
|
| Retinitis Pigmentosa |
|
|