KCTD7

Description

The KCTD7 gene encodes a protein that plays a crucial role in regulating cellular processes, including ion channel activity, protein trafficking, and cell growth. Located on chromosome 10, KCTD7 is highly expressed in various tissues, including the brain, heart, and kidneys. Its function is intricately linked to maintaining cellular homeostasis and proper signaling pathways. Mutations in KCTD7 can disrupt these processes, leading to a range of health problems.

Associated Diseases

• Epilepsy
• Intellectual disability
• Autism spectrum disorder
• Schizophrenia
• Cardiomyopathy
• Kidney disease
• Cancer

Did you know?

KCTD7 is a member of a large family of proteins known as the potassium channel tetramerization domain (KCTD) family, which share a common structural motif involved in protein-protein interactions.