IFT140
Intraflagellar transport protein 140; a component of the IFT-A complex essential for retrograde ciliary transport in photoreceptors. Mutations cause a spectrum of ciliopathies including non-syndromic LCA/EOSRD and retinitis pigmentosa (RP80). OMIM classifies IFT140 retinal disease as RP80 (617781); no official LCA subtype number assigned.
Preklinik Araştırma
No clinical trial or company program. Academic proof-of-concept: because IFT140 is too large for a single AAV, a dual-AAV Cre-lox system was used to deliver the full gene, ameliorating degeneration and preserving visual function in an IFT140-associated retinal-degeneration mouse model (Datta et al., Human Molecular Genetics 2024; University of Iowa).
Kaynaklı ve atıflı — henüz uzman incelemesinden geçmedi
Buradaki her ifade atıf yapılan birincil bir kaynağa dayanır, ancak bu sayfa henüz bir uzman tarafından resmi olarak incelenmedi.
16p13.3
Otozomal Resesif
<1% LCA vakalarının
Temel Klinik Özellikler
- 1No official LCA subtype number — classified as RP80 in OMIM
- 2Intraflagellar transport defect (retrograde IFT-A complex)
- 3Can present as non-syndromic LCA/EOSRD or retinitis pigmentosa
- 4Listed as an LCA gene in GeneReviews
Sendromik İlişkiler
IFT140 mutasyonlu hastalar diğer organların olası tutulumu açısından izlenmelidir:
- Short-rib thoracic dysplasia 9 (SRTD9)
- Mainzer-Saldino syndrome
- Nephronophthisis