background:
Required during spermatogenesis for sperm head elongation and acrosome formation.
Function:
Required during spermatogenesis for sperm head elongation and acrosome formation.
Subunit:
Membrane; Multi-pass membrane protein (Potential).
Subcellular Location:
Involvement in disease：Defects in DPY19L2 are a cause of globozoospermia (GLOBZOOS) . An infertility disorder caused by spermatogenesis defects. The most prominent feature is the malformation of the acrosome. In the most severe cases the acrosome is totally absent. Globozoospermia is also characterized by abnormal nuclear shape as well as abnormal arrangement of the mitochondria of the spermatozoon. Note=Deletions in DPY19L2 are probably the major cause of GLOBZOOS.
Tissue Specificity:
Widely expressed with high expression in testis.
DISEASE:
Defects in DPY19L2 are the cause of spermatogenic failure type 9 (SPGF9) [MIM:613958]. An infertility disorder caused by spermatogenesis defects. The most prominent feature is the malformation of the acrosome, which can be totally absent in most severe cases. Additional features are an abnormal nuclear shape and abnormal arrangement of the mitochondria of the spermatozoon. Note=Deletions in DPY19L2 are probably the major cause of SPGF9.
Similarity:
Belongs to the dpy-19 family.
Database links:
UniProtKB/Swiss-Prot: Q6NUT2.2
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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