Recombinant Human DYSF Protein, Myc/DDK-tagged, C13 and N15-labeled

• Cat.No.: DYSF-4000H
• Product Overview: DYSF MS Standard C13 and N15-labeled recombinant protein (NP_001124459) with a C-terminal MYC/DDK tag, was expressed in HEK293 cells.

Specification

• 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.

Gene Information

• Gene Name: DYSF dysferlin [ Homo sapiens (human) ]
• Official Symbol: DYSF
• Synonyms: DYSF; dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive); LGMD2B; dysferlin; FER1L1; fer-1-like protein 1; dystrophy-associated fer-1-like 1; dystrophy-associated fer-1-like protein; MMD1; FLJ00175; FLJ90168
• Gene ID: 8291
• mRNA Refseq: NM_001130987
• Protein Refseq: NP_001124459
• MIM: 603009
• UniProt ID: O75923

Reviews

08/14/2021

It has good stability and is suitable for long-term storage.

04/09/2021

The detection method is sensitive and can detect trace amounts of protein, which is very suitable for our research.

03/20/2021

DYSF is easy to operate and improves the efficiency of the experiment.

Q&As

Are variants in the DYSF gene associated with insulin resistance?

Yes, some variants in the DYSF gene are associated with insulin resistance, which may be one of the reasons for its increased risk of type 2 diabetes.

What is the role of the DYSF gene in the human body?

The protein encoded by the DYSF gene is a muscle-specific kinase that plays an important role in the structure and function of muscle cells.

How can lifestyle changes reduce the risk of DYSF gene variants?

There is currently no definitive way to alter the variant in the DYSF gene. However, the risk of type 2 diabetes can be reduced by adhering to a healthy lifestyle, such as eating a balanced diet, exercising moderately, avoiding excessive stress, etc.

Is there a specific treatment or intervention for the DYSF gene variant?

There is currently no specific treatment or intervention for the DYSF gene variant. However, the risk of type 2 diabetes can be reduced through a combination of measures such as lifestyle modifications and medications.

Are variants in the DYSF gene related to β cell function?

Yes, some variants in the DYSF gene are also involved in β cell function, which may also be one of the reasons why it affects the risk of type 2 diabetes.

What are the types of DYSF gene variants?

Variants in the DYSF gene include single nucleotide polymorphisms (SNPs), insertions/deletions, and some of these variants are associated with an increased risk of type 2 diabetes.