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[edit | edit source]
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[edit | edit source]
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[edit | edit source]
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[edit | edit source]
References[edit | edit source]
External links[edit | edit source]
- UNC13D at GeneCards
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Contributors: Prab R. Tumpati, MD
