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Immunogen sequence: LHELTFQAM AYDLLDIEQD TYRYETTGLS EAREKAVLLD EDDDLWVELR HMHIADVSKK VTELLRTFCE SKRLTTDKAN IKDLSQILKK MPQYQKELNK YSTHLHLADD CMKHFKGSVE KLCSVEQDLA MGSDAEGEKI KDSMKLIVPV LLDAAVPAYD KIRVLLLYIL LRNGVSEENL AKLIQHANVQ AHSSLIRNLE QLGGTVTNPG GSGTSSRLEP RERMEPTYQL SRWTPVIKDV MEDAVEDRLD RNLWPFVSDP APTASSQAAV SARFGHWHKN KAGIEARAGP RLIVYVMGGV AMSEMRAAYE VTRATEGKWE VLIGSSHILT PTRFLDDLKA LDKKLEDIAL P (241-590 aa encoded by BC002869)
This gene encodes a member of the STXBP/unc-18/SEC1 family. The encoded protein is involved in intracellular trafficking, control of SNARE (soluble NSF attachment protein receptor) complex assembly, and the release of cytotoxic granules by natural killer cells. Mutations in this gene are associated with familial hemophagocytic lymphohistiocytosis. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene.
For Research Use Only. Not for use in diagnostic procedures. Not for resale without express authorization.
Protein Aliases: Munc18-2; MUSEC1; Protein unc-18 homolog 2; Protein unc-18 homolog B; syntaxin binding protein Munc18-2; Syntaxin-binding protein 2; unc-18 homolog 2; Unc-18B; Unc18-2
Gene Aliases: C79054; FHL5; Hunc18b; Munc-18-2; Munc-18b; MUNC18-2; Munc18b; muSec1; pp10122; STXBP2; Sxtbp2; Sxtp2; UNC18-2; UNC18B
UniProt ID: (Human) Q15833, (Mouse) Q64324
Entrez Gene ID: (Human) 6813, (Mouse) 20911
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