DPY19L2

DPY19L2 is a gene that encodes a protein in humans. This protein is a member of the dpy-19-like protein family. Mutations in this gene have been associated with spermatogenic failure and globozoospermia, a rare form of male infertility.

Function

The DPY19L2 protein is involved in the process of spermatogenesis, the production of sperm cells. It plays a crucial role in the acrosome formation, a structure that develops over the anterior half of the head in the spermatozoa. The acrosome is derived from the Golgi apparatus and contains enzymes that are later used to penetrate the egg during fertilization.

Clinical significance

Mutations in the DPY19L2 gene are the most common cause of globozoospermia, a severe form of male infertility characterized by the production of round-headed spermatozoa. These sperm cells lack an acrosome, which prevents them from properly fertilizing an egg.

Diagnosis

Diagnosis of globozoospermia due to DPY19L2 mutations can be made through genetic testing. This can involve sequencing the DPY19L2 gene or performing a microarray to detect deletions or duplications in the gene.

Treatment

There is currently no cure for globozoospermia caused by DPY19L2 mutations. However, some men with this condition have been able to father children through intracytoplasmic sperm injection (ICSI), a type of in vitro fertilization (IVF) where a single sperm is injected directly into an egg.

See also

• Globozoospermia
• Spermatogenesis
• Male infertility

References

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