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. 2022 Jan 19;17(1):191–196. doi: 10.1515/med-2022-0411

Table 2.

Breakpoints and genes related to sperm function on chromosome 6

Breakpoint Gene Description/Phenotype Gene function
6p21 SLC26A8 Spermatogenic failure-3 The mutations in the gene associated with severe asthenozoospermia
TCTE1 T complex-associated testis-expressed 1 TCTE1 knockout mice are sterile due to asthenozoospermia
DNAH8 Spermatogenic failure-46 Spermatogenic failure-46 (SPGF46) is characterized by male infertility due to asthenoteratozoospermia
6q15 SPACA1 Sperm acrosome-associated protein 1 SPACA1 is a transmembrane protein that localizes to the equatorial segment of spermatozoa and appears to function in sperm–egg fusion
6q21 ARMC2 Spermatogenic failure-38 Spermatogenic failure-38 is characterized by primary infertility and asthenoteratozoospermia due to multiple morphologic abnormalities of the flagella
6q25 ESR1 Estrogen receptor 1 ESRA/ESRB knockout mice were infertile. They exhibited various stages of spermatogenesis, but the numbers and motility of epididymal sperm were reduced significantly