DCAF15
Description
The DCAF15 (DDB1 and CUL4 associated factor 15) is a protein-coding gene located on chromosome 19.
DCAF15, encoded by the DCAF15 gene, is a protein that forms a complex with CUL4A or CUL4B, exhibiting E3 ubiquitin ligase activity. This complex is responsible for the proteasome degradation of specific proteins.
DCAF15 is a substrate-recognition component of the DCX(DCAF15) complex, a cullin-4-RING E3 ubiquitin-protein ligase complex. This complex mediates ubiquitination and degradation of target proteins, including cohesin subunits SMC1A and SMC3. It plays a regulatory role in natural killer (NK) cell effector functions. DCAF15 may also contribute to the activation of antigen-presenting cells (APCs) and their interactions with NK cells.
DCAF15 is also known as C19orf72.
Associated Diseases
- autosomal recessive spondylocostal dysostosis
- autosomal dominant spondylocostal dysostosis
- brachyolmia, Maroteaux type
- autosomal dominant brachyolmia
- spondyloepiphyseal dysplasia tarda, autosomal dominant
- Becker nevus syndrome
- thoracolaryngopelvic dysplasia
- autosomal dominant osteosclerosis, Worth type
- kyphomelic dysplasia
- spondylometaphyseal dysplasia, A4 type
- diaphanospondylodysostosis
- Richieri Costa-da Silva syndrome
- osteomesopyknosis
- male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome
- Prata-Liberal-Goncalves syndrome
- Greenberg dysplasia
- arthrogryposis-like syndrome
- fibrochondrogenesis 2
- brachyolmia-amelogenesis imperfecta syndrome
