Protein unc-13 homolog D, also known as munc13-4, is a
protein that in humans is encoded by the UNC13Dgene.[5]
Function
Munc13-4 is a member of the UNC13 family, containing similar domain structure as other family members but lacking an
N-terminalphorbol 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.
Ménager MM, Ménasché G, Romao M, et al. (2007). "Secretory cytotoxic granule maturation and exocytosis require the effector protein hMunc13-4". Nat. Immunol. 8 (3): 257–67.
doi:
10.1038/ni1431.
PMID17237785.
S2CID25330412.
Rudd E, Bryceson YT, Zheng C, et al. (2008). "Spectrum, and clinical and functional implications of UNC13D mutations in familial haemophagocytic lymphohistiocytosis". J. Med. Genet. 45 (3): 134–41.
doi:
10.1136/jmg.2007.054288.
PMID17993578.
S2CID42503634.
Protein unc-13 homolog D, also known as munc13-4, is a
protein that in humans is encoded by the UNC13Dgene.[5]
Function
Munc13-4 is a member of the UNC13 family, containing similar domain structure as other family members but lacking an
N-terminalphorbol 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.
Ménager MM, Ménasché G, Romao M, et al. (2007). "Secretory cytotoxic granule maturation and exocytosis require the effector protein hMunc13-4". Nat. Immunol. 8 (3): 257–67.
doi:
10.1038/ni1431.
PMID17237785.
S2CID25330412.
Rudd E, Bryceson YT, Zheng C, et al. (2008). "Spectrum, and clinical and functional implications of UNC13D mutations in familial haemophagocytic lymphohistiocytosis". J. Med. Genet. 45 (3): 134–41.
doi:
10.1136/jmg.2007.054288.
PMID17993578.
S2CID42503634.