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ZPBP

Function

Plays a role in acrosome compaction and sperm morphogenesis (PubMed:21911476). Is implicated in sperm-oocyte interaction during fertilization (By similarity).

Involvement in disease

Spermatogenic failure 66

SPGF66

An autosomal recessive male infertility disorder characterized by globozoospermia. Affected individuals have a normal sperm count, but spermatozoa are round-headed and lack the acrosome. In addition to pure globozoospermia, some patients have a mixture of acrosomeless spermatozoa and spermatozoa with small or detached acrosomes, which is defined as acrosomal hypoplasia.

None

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

Post-translational modifications

N-glycosylated.

Sequence Similarities

Belongs to the zona pellucida-binding protein Sp38 family.

Tissue Specificity

Expressed specifically in testis.

Cellular localization

Alternative names

ZPBP1, ZPBP, Zona pellucida-binding protein 1, Inner acrosomal membrane IAM38, Sp38

swissprot:Q9BS86 entrezGene:11055 omim:608498