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UNC13D

Protein-coding gene in the species Homo sapiens From Wikipedia, the free encyclopedia

UNC13D
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Protein unc-13 homolog D, also known as munc13-4, is a protein that in humans is encoded by the UNC13D gene.[5]

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Function

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

Mutations in the UNC13D gene are associated with hemophagocytic lymphohistiocytosis type 3.[5]

References

Further reading

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