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.
