RNF38
Description
The RNF38 (ring finger protein 38) is a protein-coding gene located on chromosome 9.
RNF38 is a protein encoded by the RNF38 gene in humans. It contains a coiled-coil motif and a RING-H2 motif (C3H2C2) at its carboxy-terminus. The RING motif is a zinc-binding domain involved in various cellular processes, including cancer development, growth, signaling, and programmed cell death. Different isoforms of RNF38 are produced due to alternative splicing of the gene.
RNF38 is also known as -.
Associated Diseases
- X-linked retinal dysplasia
- severe early-childhood-onset retinal dystrophy
- reticular dystrophy of the retinal pigment epithelium
- age related macular degeneration 4
- age related macular degeneration 7
- age related macular degeneration 11
- retinitis pigmentosa
- X-linked retinoschisis
- coloboma of macula
- coloboma of optic nerve
- familial retinal arterial macroaneurysm
- Senior-Loken syndrome 7
- snowflake vitreoretinal degeneration
- exudative vitreoretinopathy 2, X-linked
- Coats disease
