| Description : |
The protein encoded by this gene belongs to the ferlin family and is a skeletal muscle protein found associated with the sarcolemma. It is involved in muscle contraction and contains C2 domains that play a role in calcium-mediated membrane fusion events, suggesting that it may be involved in membrane regeneration and repair. In addition, the protein encoded by this gene binds caveolin-3, a skeletal muscle membrane protein which is important in the formation of caveolae. Specific mutations in this gene have been shown to cause autosomal recessive limb girdle muscular dystrophy type 2B (LGMD2B) as well as Miyoshi myopathy. Alternative splicing results in multiple transcript variants. |
| Source : |
HEK293 |
| Species : |
Human |
| Tag : |
Myc/DDK |
| Molecular Mass : |
241.2 kDa |
| AA Sequence : |
MLCCLLVRASNLPSAKKDRRSDPVA SLTFRGVKKRTKVIKNSVNPVWNEG FEWDLKGIPLDQGSELHVVVKDHET MGRNRFLGEAKVPLREVLATPSLSA SFNAPLLDTKKQPTGASLVLQVSYT PLPGAVPLFPPPTPLEPSPTLPDLD VVAGGGQSRAETWSLLSDSTMDTRY SGKKWPAPTDTGGEEDTEDQGLTGD EAEPFLDQSGGPGAPTTPRKLPSRP PPHYPGIKRKRSAPTSRKLLSDKPQ DFQIRVQVIEGRQLPGVNIKPVVKV TAAGQTKRTRIHKGNSPLFNETLFF NLFDSPGELFDEPIFITVVDSRSLR TDALLGEFRMDVGTIYREPRHAYLR KWLLLSDPDDFSAGARGYLKTSLCV LGPGDEAPLERKDPSEDKEDIESNL LRPTGVALRGAHFCLKVFRAEDLPQ MDDAVMDNVKQIFGFESNKKNLVDP FVEVSFAGKMLCSKILEKTANPQWN QNITLPAMFPSMCEKMRIRIIDWDR LTHNDIVATTYLSMSKISAPGGEIE VDDYLGFLPTFGPCYINLYGSPREF TGFPDPYTELNTGKGEGVAYRGRLL LSLETKLVEHSEQKVEDLPADDILR VEKYLRRRKYSLFAAFYSATMLQDV DDAIQFEVSIGNYGNKFDMTCLPLA STTQYSRAVFDGCHYYYLPWGNVKP VVVLSSYWEDISHRIETQNQLLGIA DRLEAGLEQVHLALKAQCSTEDVDS LVAQLTDELIAGCSQPLGDIHETPS ATHLDQYLYQLRTHHLSQITEAALA LKLGHSELPAALEQAEDWLLRLRAL AEEPQNSLPDIVIWMLQGDKRVAYQ RVPAHQVLFSRRGANYCGKNCGKLQ TIFLKYPMEKVPGARMPVQIRVKLW FGLSVDEKEFNQFAEGKLSVFAETY ENETKLALVGNWGTTGLTYPKFSDV TGKIKLPKDSFRPSAGWTWAGDWFV CPEKTLLHDMDAGHLSFVEEVFENQ TRLPGGQWIYMSDNYTDVNGEKVLP KDDIECPLGWKWEDEEWSTDLNRAV DEQGWEYSITIPPERKPKHWVPAEK MYYTHRRRRWVRLRRRDLSQMEALK RHRQAEAEGEGWEYASLFGWKFHLE YRKTDAFRRRRWRRRMEPLEKTGPA AVFALEGALGGVMDDKSEDSMSVST LSFGVNRPTISCIFDYGNRYHLRCY MYQARDLAAMDKDSFSDPYAIVSFL HQSQKTVVVKNTLNPTWDQTLIFYE IEIFGEPATVAEQPPSIVVELYDHD TYGADEFMGRCICQPSLERMPRLAW FPLTRGSQPSGELLASFELIQREKP AIHHIPGFEVQETSRILDESEDTDL PYPPPQREANIYMVPQNIKPALQRT AIEILAWGLRNMKSYQLANISSPSL VVECGGQTVQSCVIRNLRKNPNFDI CTLFMEVMLPREELYCPPITVKVID NRQFGRRPVVGQCTIRSLESFLCDP YSAESPSPQGGPDDVSLLSPGEDVL IDIDDKEPLIPIQLADGLSSLAPTN TASPPSSPHEEEFIDWWSKFFASIG EREKCGSYLEKDFDTLKVYDTQLEN VEAFEGLSDFCNTFKLYRGKTQEET EDPSVIGEFKGLFKIYPLPEDPAIP MPPRQFHQLAAQGPQECLVRIYIVR AFGLQPKDPNGKCDPYIKISIGKKS VSDQDNYIPCTLEPVFGKMFELTCT LPLEKDLKITLYDYDLLSKDEKIGE TVVDLENRLLSKFGARCGLPQTYCV SGPNQWRDQLRPSQLLHLFCQQHRV KAPVYRTDRVMFQDKEYSIEEIEAG RIPNPHLGPVEERLALHVLQQQGLV PEHVESRPLYSPLQPDIEQGKLQMW VDLFPKALGRPGPPFNITPRRARRF FLRCIIWNTRDVILDDLSLTGEKMS DIYVKGWMIGFEEHKQKTDVHYRSL GGEGNFNWRFIFPFDYLPAEQVCTI AKKDAFWRLDKTESKIPARVVFQIW DNDKFSFDDFLGSLQLDLNRMPKPA KTAKKCSLDQLDDAFHPEWFVSLFE QKTVKGWWPCVAEEGEKKILAGKLE MTLEIVAESEHEERPAGQGRDEPNM NPKLEDPRRPDTSFLWFTSPYKTMK FILWRRFRWAIILFIILFILLLFLA IFIYAFPNYAAMKLVKPFSTRTRPL EQKLISEEDLAANDILDYKDDDDKV |
| 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. |
