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Search results 1 to 1 out of 1 for Dnaaf1

Category restricted to ProteinDomain (x)

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Category: ProteinDomain
Type Details Score
Protein Domain
Type: Family
Description: Dynein assembly factor 1 (also known as LRRC50) is a cilium-specific protein involved in the cytoplasmic preassembly of dynein arms []. Its homologue in Chlamydomonas, known as ODA7, serves as a structural link between inner and outer row dyneins []. Defects in the LRRC50 gene are the cause of primary ciliary dyskinesia type 13 (CILD13), which is a disorder characterised by abnormalities of motile cilia [], leading to respiratory infections and reduced male fertility. Aberrations in the gene may also be implicated in cystic kidney disease [].