SPAG1(sperm-associated antigen 1)is one of over 50 genes whose pathogenic variants underlie primary ciliary dyskinesia(PCD;OMIM244400),an inherited disorder affecting the function of motile cilia,1 highly conserved or...SPAG1(sperm-associated antigen 1)is one of over 50 genes whose pathogenic variants underlie primary ciliary dyskinesia(PCD;OMIM244400),an inherited disorder affecting the function of motile cilia,1 highly conserved organelles protruding from the surface of eukaryotic cells.Pathogenic SPAG1 variants impair the assembly of dynein arms,essential elements of cilia.展开更多
基金funded by the National Science Centre,Poland(No.2018/29/N/NZ5/00810 to A.R.2018/31/B/NZ2/03248 to E.Z.)by the Institute of Human Genetics PAS,Poland(Minigrant No.2021/01 to A.R.).
文摘SPAG1(sperm-associated antigen 1)is one of over 50 genes whose pathogenic variants underlie primary ciliary dyskinesia(PCD;OMIM244400),an inherited disorder affecting the function of motile cilia,1 highly conserved organelles protruding from the surface of eukaryotic cells.Pathogenic SPAG1 variants impair the assembly of dynein arms,essential elements of cilia.
