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DPY19L2 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

DPY19L2 gene

The DPY19L2 gene is essential for the development of sperm cells, specifically the formation of the acrosome.

Overview

The DPY19L2 gene provides instructions for making a protein found in developing sperm cells. This protein is critical for the development of the acrosome, a cap-like structure on the head of the sperm that contains enzymes necessary to break down the outer membrane of an egg cell for fertilization.

The DPY19L2 protein is located within the nuclear membrane and helps attach the forming acrosome to the nucleus. As the sperm matures, this attachment allows the acrosome to move to the tip of the sperm head, facilitating the elongation of the head into an oval shape.

Health Conditions Related to Genetic Changes

Globozoospermia

Mutations in the DPY19L2 gene are a major cause of globozoospermia, a condition where sperm cells have round heads and lack an acrosome.

  • Approximately 70 percent of men with this condition have DPY19L2 mutations, which often involve large deletions of the gene.
  • The loss of functional DPY19L2 protein prevents the acrosome from anchoring to the nucleus, leading to its removal from the cell.
  • Without an acrosome and the proper elongated head shape, the sperm cannot penetrate the egg, resulting in male infertility.

Genomic Location

The DPY19L2 gene is found on chromosome 12.

Frequently Asked Questions

Natural conception is extremely unlikely or impossible for men with DPY19L2 mutations because the sperm lack the acrosome and the proper head shape required to penetrate the egg's outer membrane. Without this ability, fertilization cannot occur naturally. However, biological parenthood is possible through assisted reproductive technologies, specifically intracytoplasmic sperm injection (ICSI), where a single sperm is injected directly into an egg, bypassing the need for the sperm to penetrate the egg on its own.
The primary sign is male infertility, often with a normal sperm count but abnormal sperm morphology. A semen analysis will reveal that the majority of sperm have round heads (globozoa) and lack the acrosome, the cap-like structure needed to penetrate the egg. Diagnosis is confirmed through genetic testing that identifies mutations or large deletions in the DPY19L2 gene, which is responsible for anchoring the acrosome to the sperm nucleus during development.
DPY19L2 mutations are typically inherited in an autosomal recessive pattern, meaning a man must inherit two copies of the mutated gene (one from each parent) to be affected. If a man with this condition has a child via ICSI, that child will inherit one copy of the mutated gene. While the child will be a carrier, they will not have globozoospermia unless their future partner is also a carrier of a DPY19L2 mutation. Genetic counseling is advised to assess the partner's carrier status and understand the risks for future generations.
Currently, DPY19L2 mutations are primarily associated with male infertility due to globozoospermia. There is no strong evidence linking these specific mutations to other systemic health problems, developmental delays, or cognitive impairments. The protein is specifically critical for sperm maturation, and its loss appears to affect sperm structure without causing widespread issues in other body systems.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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