TOPAZ1
Description
The TOPAZ1 (testis and ovary specific TOPAZ 1) is a protein-coding gene located on chromosome 3.
TOPAZ1 plays a crucial role in normal spermatogenesis and male fertility. It is essential for the progression of spermatocyte development beyond the meiotic stage. TOPAZ1 appears to regulate the expression levels of various genes specifically expressed in the testes, although the exact mechanism remains unclear.
TOPAZ1 is also known as C3orf77.
Associated Diseases
- male infertility with teratozoospermia due to single gene mutation
- partial chromosome Y deletion
- schizophrenia
- anorexia nervosa
- bipolar disorder
- spermatogenic failures 50
- spermatogenic failure 25
- spermatogenic failure, X-linked, 2
- spinocerebellar ataxia type 32
- congenital bilateral absence of vas deferens
- isochromosomy Yp
