ASZ1
Description
The ASZ1 (ankyrin repeat, SAM and basic leucine zipper domain containing 1) is a protein-coding gene located on chromosome 7.
ASZ1 (Ankyrin repeat, SAM and basic leucine zipper domain-containing protein 1) is a protein encoded by the ASZ1 gene in humans. It is involved in spermatogenesis and plays a critical role in silencing transposable elements, ensuring germline integrity.
ASZ1 plays a crucial role in spermatogenesis by suppressing transposable elements and preventing their activation, which is essential for the integrity of the germline. This protein functions through the piRNA metabolic pathway, which silences transposable elements during meiosis by forming complexes containing piRNAs and Piwi proteins. These complexes regulate the methylation and subsequent repression of transposons. ASZ1's association with pi-bodies indicates a role in the primary piRNA metabolic process. Before the pachytene stage, ASZ1 is required for the production of various piRNAs, including those associated with repeats that control retrotransposons. ASZ1 may also facilitate protein-protein interactions during germ cell development.
ASZ1 is also known as ALP1, ANKL1, C7orf7, CT1.19, GASZ, Orf3.
Associated Diseases
- type 1 diabetes mellitus
- male infertility with teratozoospermia due to single gene mutation
- partial chromosome Y deletion
- spermatogenic failures 50
- spermatogenic failure 25
- spermatogenic failure, X-linked, 2
- congenital bilateral absence of vas deferens
- spermatogenic failure 73
- spermatogenic failure 74
- spermatogenic failure 61
- spermatogenic failure 48
- isochromosomy Yp
- spermatogenic failure 72
