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Immunogen sequence: MATLLSHPQ QRPPFLRQAI KIRRRRVRDL QDPPPQMAPE IQPPSHHFSP EQRALLYEDA LYTVLHRLGH PEPNHVTEAS ELLRYLQEAF HVEPEEHQQT LQRVRELEKP IFCLKATVKQ AKGILGKDVS GFSDPYCLLG IEQGVGVPGG SPGSRHRQKA VVRHTIPEEE THRTQVITQT LNPVWDETFI LEFEDITNAS FHLDMWDLDT VESVRQKLGE LTDLHGLRRI FKEARKDKGQ DDFLGNVVLR LQDLRCREDQ WYPLEPRTET YPDRGQCHLQ FQLIHKRRAT SASRSQPSYT VHLHLLQQLV SHEVTQHEAG STSWDGSL (1-327 aa encoded by BC067084)
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: munc 13-4; Munc13-4; Protein unc-13 homolog D
Gene Aliases: FHL3; HLH3; HPLH3; Munc13-4; UNC13D
UniProt ID: (Human) Q70J99
Entrez Gene ID: (Human) 201294
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