DRAM2

The protein encoded by this gene binds microtubule-associated protein 1 light chain 3 and is required for autophagy. Defects in this gene are a cause of retinal dystrophy. In addition, two microRNAs (microRNA 125b-1 and microRNA 144) can bind to the mRNA of this gene and produce the disease state. [provided by RefSeq, Mar 2017]

DNA Damage Regulated Autophagy Modulator 2

Plays a role in the initiation of autophagy. In the retina, might be involved in the process of photoreceptor cells renewal and recycling to preserve visual function. Induces apoptotic cell death when coexpressed with DRAM1.

Apoptotic process Source: UniProtKB-KW
Autophagy Source: UniProtKB-KW
Photoreceptor cell maintenance Source: UniProtKB
Regulation of autophagy Source: UniProtKB
Visual perception Source: UniProtKB

Lysosome membrane; Apical cell membrane; Photoreceptor inner segment. Localized to photoreceptor inner segments and to the apical surface of retinal pigment epithelial cells.

Cone-rod dystrophy 21 (CORD21):
A form of cone-rod dystrophy, an inherited retinal dystrophy characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa, due to cone photoreceptors degenerating at a higher rate than rod photoreceptors.