DCAF15

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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