SCLT1 — Sodium Channel And Clathrin Linker 1

Illustration of the eye cross-section showing the retina at the back of the eye
Illustration of the eye cross-section showing the retina at the back of the eye

SCLT1 (BBS24) encodes a centriolar protein required for the formation of distal appendages on the mother centriole, which are essential for ciliogenesis. Mutations disrupt cilia formation and cause Bardet-Biedl syndrome type 24.

Gene description: SCLT1 (BBS24) encodes a centriolar protein required for the formation of distal appendages on the mother centriole, which are essential for ciliogenesis. Mutations disrupt cilia formation and cause Bardet-Biedl syndrome type 24.

Clinical significance: Mutations cause BBS24. Disruption of distal appendages prevents proper cilia formation, explaining the ciliopathy phenotype.

Inheritance: Autosomal Recessive