Species Human Entrez 55172 | Human Mouse Ensembl ENSG00000165506 | |
Aliases DNAAF2, C14orf104, CILD10, KTU, PF13, dynein (axonemal) assembly factor 2 External IDs MGI: 1923566 HomoloGene: 10026 GeneCards: DNAAF2 | ||
Chromosome 14 open reading frame 104, also known as kintoun, is a protein that in humans is encode by the KTU gene. The now official name is DNAAF2
Contents
Function
Kintoun is a highly conserved protein involved in the preassembly of dynein arm complexes which power cilia. These complexes are found in some cilia and are assembled in the cytoplasm prior to transport for ciliogenesis.
Clinical significance
Mutations in the C14orf104 are associated with primary ciliary dyskinesia.
References
C14orf104 Wikipedia(Text) CC BY-SA