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Proteintech
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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
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.
仅用于科研。不用于诊断过程。未经明确授权不得转售。
蛋白别名: munc 13-4; Munc13-4; Protein unc-13 homolog D
基因别名: FHL3; HLH3; HPLH3; Munc13-4; UNC13D
UniProt ID: (Human) Q70J99
Entrez Gene ID: (Human) 201294