WDPCP

Description

The WDPCP gene encodes a protein crucial for the formation and function of cilia, tiny hair-like structures found on the surface of many cells. These cilia play vital roles in sensory perception, fluid movement, and cell signaling. WDPCP mutations can disrupt ciliogenesis, leading to a range of developmental and health issues.

Associated Diseases

• Bardet-Biedl Syndrome (BBS)
• Joubert Syndrome
• Meckel-Gruber Syndrome
• Sensenbrenner Syndrome
• Orofaciodigital Syndrome type I
• Nephronophthisis

Did you know?

WDPCP mutations are linked to both autosomal recessive and dominant inheritance patterns, highlighting the complexity of its genetic contributions.