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CLUAP1 (IFT38)
CLUAP1 (IFT38)
Clusterin-associated protein 1 (also known as IFT38); required for ciliogenesis and cilia maintenance. Associates with the IFT complex B and undergoes intraflagellar transport. Knockout in zebrafish causes photoreceptor cell death by 5 days post-fertilization.
Henüz Hedefli Tedavi Yok
Kromozomal Lokus
16p13.3
Kalıtım
Otozomal Resesif
Sıklık
<1% LCA vakalarının
Temel Klinik Özellikler
- 1No official LCA subtype number assigned — candidate LCA gene
- 2IFT-B complex component required for ciliogenesis
- 3Hypomorphic mutations identified in LCA patients
- 4Zebrafish knockout confirms photoreceptor degeneration