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| Infertility and Recurrent Pregnancy Loss v0.212 | ACTL9 | Zornitza Stark Marked gene: ACTL9 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v0.212 | ACTL9 | Zornitza Stark Gene: actl9 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v0.212 | ACTL9 | Zornitza Stark Classified gene: ACTL9 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v0.212 | ACTL9 | Zornitza Stark Gene: actl9 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Infertility and Recurrent Pregnancy Loss v0.151 | ACTL9 |
Jasmine Chew gene: ACTL9 was added gene: ACTL9 was added to Infertility and Pregnancy Loss. Sources: Literature Mode of inheritance for gene: ACTL9 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ACTL9 were set to 33626338; 38963606 Phenotypes for gene: ACTL9 were set to Spermatogenic failure 53, MIM# 619258 Review for gene: ACTL9 was set to GREEN Added comment: Literature in OMIM entry- PMID: 33626338 (3 unrelated Chinese men with infertility due to spermatogenic failure with 2 hom missense variants, supported by functional evidence) Other papers: i) PMID: 38963606 (2024)- novel homozygous p.Gly342Cys and p.Val380Leu sitting in the actin domain in two independent Chinese families. Spermatozoa with ACTL9 mutations showed decreased CASA parameters and a higher proportion of spermatozoa with abnormal morphology, exhibiting coiled flagella and a thickened midpiece. The spermatozoa were characterized by chaotic or irregular '9+2' structures and irregular mitochondrial sheath arrangements in the flagellum. There was no significant difference in ACTL9 expression between the HeLa cells transfected with the WT and mutant ACTL9 plasmids. Actl9 knock-in mice also showed abnormal CASA parameters and irregular '9+2' structures in flagella. Sources: Literature |
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