ZNF830
Description
The ZNF830 (zinc finger protein 830) is a protein-coding gene located on chromosome 17.
Zinc finger protein 830 is a protein that in humans is encoded by the ZNF830 gene.
ZNF830 is involved in pre-mRNA splicing as part of the spliceosome. It acts as a critical regulator of the cell cycle and contributes to maintaining the integrity of the genome. During embryonic fibroblast cell cycle progression, ZNF830 prevents replication fork collapse, double-strand breaks, and cell cycle checkpoint activation. It also regulates mitotic cell cycle progression and cell survival in rapidly proliferating intestinal epithelium and embryonic stem cells. During embryo preimplantation, it controls various aspects of the M phase. In early oocyte growth, ZNF830 plays a role in oocyte survival by preventing chromosomal breaks, TP63 activation, and transcriptional reduction.
ZNF830 is also known as CCDC16, OMCG1.
Associated Diseases
- X-linked retinal dysplasia
- retinitis pigmentosa
- severe early-childhood-onset retinal dystrophy
- reticular dystrophy of the retinal pigment epithelium
- X-linked retinoschisis
- cancer
- age related macular degeneration 11
- age related macular degeneration 7
- age related macular degeneration 4
- late-onset retinal degeneration
- birdshot chorioretinopathy
- coloboma of optic nerve
- retinitis pigmentosa 50
