KCTD15
Function
During embryonic development, it is involved in neural crest formation (By similarity). Inhibits AP2 transcriptional activity by interaction with its activation domain (PubMed:23382213).
Involvement in disease
Defects in KCTD15, affecting the BTB domain of the protein, may be the cause of a distinctive frontonasal dysplasia syndrome characterized by a midline mass containing fatty or hamartomatous tissue that overlies the frontonasal region, sparse scalp hair, and aplasia cutis of the scalp. Additionally, congenital heart disease has been observed in one family.
Cellular localization
- Nucleus
Alternative names
BTB/POZ domain-containing protein KCTD15, Potassium channel tetramerization domain-containing protein 15, KCTD15