TBC1D25
Description
The TBC1D25 (TBC1 domain family member 25) is a protein-coding gene located on chromosome X.
TBC1D25 acts as a GTPase-activating protein (GAP) specifically for RAB33B. It plays a role in regulating autophagosome maturation, the process where autophagosomes fuse with endosomes and lysosomes.
TBC1D25 is also known as MG81, OATL1.
Associated Diseases
- 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
- left ventricular noncompaction
- late-onset retinal degeneration
- dilated cardiomyopathy 1I
- snowflake vitreoretinal degeneration
- coloboma of macula
- retinitis pigmentosa 50
- birdshot chorioretinopathy
