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SPINK2

Function

As a strong inhibitor of acrosin, it is required for normal spermiogenesis. It probably hinders premature activation of proacrosin and other proteases, thus preventing the cascade of events leading to spermiogenesis defects (PubMed:28554943). May be involved in the regulation of serine protease-dependent germ cell apoptosis (By similarity). It also inhibits trypsin.

Involvement in disease

Spermatogenic failure 29

SPGF29

An autosomal recessive infertility disorder caused by spermatogenesis defects that result in non-obstructive azoospermia or oligozoospermia. When produced, spermatozoa are immotile and have abnormal morphology, primarily defects of the acrosome and head-neck junction.

None

The disease is caused by variants affecting the gene represented in this entry.

Tissue Specificity

Expressed in epididymis (at protein level).

Cellular localization

Alternative names

Serine protease inhibitor Kazal-type 2, Acrosin-trypsin inhibitor, Epididymis tissue protein Li 172, HUSI-II, SPINK2

omim:605753 entrezGene:6691 swissprot:P20155