UNC13D

UNC13D is a gene that in humans is encoded by the UNC13D protein. This gene is a member of the UNC13 family, encoding different isoforms with predicted molecular weights of 134, 133 and 110 kDa.

Function

UNC13D is involved in the priming step of the ca2+-dependent exocytosis process. The protein encoded by this gene functions as a key regulator of vesicle priming in lymphocytes, playing a crucial role in lymphocyte activation and mast cell degranulation.

Clinical significance

Mutations in the UNC13D gene are associated with Familial Hemophagocytic Lymphohistiocytosis type 3 (FHL3), a rare and lethal autosomal recessive disorder of early infancy. FHL3 is characterized by fever, hepatosplenomegaly, cytopenia, and less frequently neurological abnormalities.

Research

Research into the UNC13D gene and its associated protein continues to be a significant focus in the field of genetics and molecular biology. Understanding the function and regulation of this gene could lead to new treatments for diseases such as FHL3.

See also

• Familial Hemophagocytic Lymphohistiocytosis
• Exocytosis
• Lymphocyte

External links

• UNC13D at GeneCards