|Western Blot (WB)||1-3 ug/ml|
|Tested Species reactivity||Human|
|Host / Isotype||Goat / IgG|
|Immunogen||Synthetic peptide sequence (KQASQHALRPAP) corresponding to the C-terminus amino acids of UNC13D|
|Purification||Antigen affinity chromatography|
|Storage buffer||TBS, pH 7.3, with 0.5% BSA|
|Contains||0.02% sodium azide|
|Storage conditions||-20° C, Avoid Freeze/Thaw Cycles|
This gene encodes a protein that 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. Mutations in this gene are associated with familial hemophagocytic lymphohistiocytosis type 3, a genetically heterogeneous, rare autosomal recessive disorder.
For Research Use Only. Not for use in diagnostic procedures. Not for resale without express authorization.
Protein Aliases: FHL3; HLH3; HPLH3; Munc13-4; Protein unc-13 homolog D; unc-13 homolog D; unc-13 homolog D (C. elegans); UNC13D
Gene Aliases: FHL3; HLH3; HPLH3; Munc13-4; UNC13D
UniProt ID: (Human) Q70J99
Entrez Gene ID: (Human) 201294
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