DPY19L2

DPY19L2, or dumpy-19-like 2, is a human gene that encodes a protein belonging to the DPY19-like family. It is primarily expressed in testicular tissue and is implicated in spermatogenesis, with a particular role in acrosome formation and sperm head morphology.

Biochemical function is not fully defined, but DPY19L2 is thought to participate in Golgi-related trafficking processes during spermiogenesis that are required for acrosome biogenesis. Immunolocalization studies place the protein in the developing sperm head and acrosomal region, and genetic studies in humans and model organisms support its involvement in sperm head integrity.

Clinical significance: Genetic defects of DPY19L2, especially deletions of one or both alleles, are a recognized cause of acephalic sperm syndrome (globozoospermia-like phenotype). Affected men typically produce sperm with abnormal head shape or absent acrosomes, leading to infertility. The condition is often inherited in an autosomal recessive pattern. In many cases, assisted reproductive technologies such as intracytoplasmic sperm injection can enable fertilization.

Genetics and broader context: DPY19L2 is part of a DPY19-like gene family with several paralogs in humans. Reported mutations include deletions and smaller sequence alterations detected by sequencing and copy-number analyses. Studies in humans and model organisms continue to refine its precise function and the potential for diagnostic testing or targeted therapies.