UNC13D
Lua error in Module:Infobox_gene at line 53: attempt to index field 'wikibase' (a nil value). Protein unc-13 homolog D, also known as munc13-4, is a protein that in humans is encoded by the UNC13D gene.[1]
Function
[edit | edit source]Munc13-4 is a member of the UNC13 family, containing similar domain structure as other family members but lacking an N-terminal phorbol ester-binding C1 domain present in other Munc13 proteins. The protein appears to play a role in vesicle maturation during exocytosis and is involved in regulation of cytolytic granules secretion.
Clinical significance
[edit | edit source]Mutations in the UNC13D gene are associated with hemophagocytic lymphohistiocytosis type 3.[1]
References
[edit | edit source]Further reading
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External links
[edit | edit source]- UNC13D+protein,+human at the U.S. National Library of Medicine Medical Subject Headings (MeSH)
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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