SAMD7
Description
The SAMD7 (sterile alpha motif domain containing 7) is a protein-coding gene located on chromosome 3.
SAMD7 is involved in regulating gene expression specifically within the retina. It acts as a suppressor, inhibiting the activity of genes controlled by the CRX protein.
SAMD7 is also known as MDCD.
Associated Diseases
- macular dystrophy, retinal
- retinitis pigmentosa
- X-linked retinal dysplasia
- severe early-childhood-onset retinal dystrophy
- reticular dystrophy of the retinal pigment epithelium
- age related macular degeneration 7
- age related macular degeneration 11
- age related macular degeneration 4
- choroidal dystrophy, central areolar, 1
- X-linked retinoschisis
- coloboma of optic nerve
- late-onset retinal degeneration
- snowflake vitreoretinal degeneration
- birdshot chorioretinopathy
- retinitis pigmentosa 50
- exudative vitreoretinopathy 2, X-linked
