Description : |
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. |
Source : |
HEK293 |
Species : |
Human |
Tag : |
Myc/DDK |
Molecular Mass : |
123.3 kDa |
AA Sequence : |
MATLLSHPQQRPPFLRQAIKIRRRR VRDLQDPPPQMAPEIQPPSHHFSPE QRALLYEDALYTVLHRLGHPEPNHV TEASELLRYLQEAFHVEPEEHQQTL QRVRELEKPIFCLKATVKQAKGILG KDVSGFSDPYCLLGIEQGVGVPGGS PGSRHRQKAVVRHTIPEEETHRTQV ITQTLNPVWDETFILEFEDITNASF HLDMWDLDTVESVRQKLGELTDLHG LRRIFKEARKDKGQDDFLGNVVLRL QDLRCREDQWYPLEPRTETYPDRGQ CHLQFQLIHKRRATSASRSQPSYTV HLHLLQQLVSHEVTQHEAGSTSWDG SLSPQAATVLFLHATQKDLSDFHQS MAQWLAYSRLYQSLEFPSSCLLHPI TSIEYQWIQGRLKAEQQEELAASFS SLLTYGLSLIRRFRSVFPLSVSDSP ARLQSLLRVLVQMCKMKAFGELCPN TAPLPQLVTEALQTGTTEWFHLKQQ HHQPMVQGIPEAGKALLGLVQDVIG DLHQCQRTWDKIFHNTLKIHLFSMA FRELQWLVAKRVQDHTTVVGDVVSP EMGESLFQLYISLKELCQLRMSSSE RDGVLALDNFHRWFQPAIPSWLQKT YNEALARVQRAVQMDELVPLGELTK HSTSAVDLSTCFAQISHTARQLDWP DPEEAFMITVKFVEDTCRLALVYCS LIKARARELSSGQKDQGQAANMLCV VVNDMEQLRLVIGKLPAQLAWEALE QRVGAVLEQGQLQNTLHAQLQSALA GLGHEIRTGVRTLAEQLEVGIAKHI QKLVGVRESVLPEDAILPLMKFLEV ELCYMNTNLVQENFSSLLTLLWTHT LTVLVEAAASQRSSSLASNRLKIAL QNLEICFHAEGCGLPPKALHTATFQ ALQRDLELQAASSRELIRKYFCSRI QQQAETTSEELGAVTVKASYRASEQ KLRVELLSASSLLPLDSNGSSDPFV QLTLEPRHEFPELAARETQKHKKDL HPLFDETFEFLVPAEPCRKAGACLL LTVLDYDTLGADDLEGEAFLPLREV PGLSGSEEPGEVPQTRLPLTYPAPN GDPILQLLEGRKGDREAQVFVRLRR HRAKQASQHALRPAPTRTRPLEQKL ISEEDLAANDILDYKDDDDKV |
Purity : |
> 80% as determined by SDS-PAGE and Coomassie blue staining |
Stability : |
Stable for 3 months from receipt of products under proper storage and handling conditions. |
Storage : |
Store at -80 centigrade. Avoid repeated freeze-thaw cycles. |
Concentration : |
50 μg/mL as determined by BCA |
Storage Buffer : |
100 mM glycine, 25 mM Tris-HCl, pH 7.3. |