Identified in an exome sequencing analysis, and testis-specific single-cell RNA sequencing analysis, of 1305 men, including 1056 crypto- and azoospermic individuals (FBrf0258762), the human gene ZFAND3 is proposed as a candidate gene for involvement in human male fertility. ZFAND3 encodes the protein zinc finger AN1-type containing 3. There are two low-scoring fly orthologs, Dmel\CG15368, for which RNAi-targeting constructs have been generated, and Dmel\Rabex-5, for which classical alleles, RNAi-targeting constructs, and alleles caused by insertional mutagenesis have been generated. Only Dmel\CG15368 has been analyzed in the context of human disease
Human ZFAND3 has not been introduced into flies.
Testis-specific RNAi-mediated knockdown of Dmel\CG15368 did not result in an observable phenotype.
[updated Feb. 2024 by FlyBase; FBrf0222196]
Non-obstructive azoospermia (NOA) is defined as absence of any measurable level of sperm in semen, resulting from a defect in the production of spermatozoa in the testes. [from MedGen, Non-obstructive azoospermia; MedGen UID: 866757]
Non-obstructive azoospermia (NOA), or failure of spermatogenesis within the testis, is diagnosed in approximately 10% of infertile men. NOA may be due to a lack of appropriate stimulation by gonadotropins, in which case hormonal therapy is usually effective. A larger category of non-obstructive azoospermia consists of men with an intrinsic testicular impairment. In these cases, the primary approach is to improve the quantity and quality of sperm retrieved from the testis for use for in vitro fertilization (Kumar, 2013; PMCID:PMC3583162).
Men with missense or other mutations in ZFAND3 have semen phenotypes of azoospermia, and testicular phenotypes of Sertoli cell-only phenotype, or round spermatid arrest (Sieper, et al., 2024, pubmed:37594251; FBrf0258762).
Azoospermia (postulated), ZFAND3-related exhibits an autosomal dominance inheritance pattern (Sieper, et al., 2024, pubmed:37594251; FBrf0258762).
ZFAND3 is predicted to enable DNA binding activity and zinc ion binding activity. [provided by Alliance of Genome Resources, Apr 2022]
Low-scoring ortholog of human ZFAND3 (2 Drosophila to 1 human).
Low-scoring ortholog of human ZFAND3 (2 Drosophila to 1 human).
