Dysferlin Recombinant Protein | DYSF recombinant protein

Recombinant Dysferlin (DYSF)

Cat. Num. AAA2029729

• Gene Names: DYSF; MMD1; FER1L1; LGMD2B
• Applications: SDS-Page, Western Blot, ELISA, Immunoprecipitation
• Purity: >95%
• Synonyms: Dysferlin; Recombinant Dysferlin (DYSF); DYSF recombinant protein

• Host: Host: E Coli; Source: Prokaryotic expression
• Purity/Purification: >95%
• Form/Format: Supplied as lyophilized form in PBS, pH7.4, containing 5% trehalose, 0.01% sarcosyl.
• Sequence: The target protein is fused with two N-terminal Tags, His-tag and T7-tag, its sequence is listed below.; MLRVFILYAE NVHTPDTDIS DAYCSAVFAG VKKRTKVIKN SVNPVWNEGFEWDLKGIPLD QGSELHVVVK DHETMGRNRF LGEAKVPLRE VLATPSLSASFNAPLLDTKK QPTGASLVLQ VSYTPLPGAV PLFPPPTPLE PSPTLPDLDVVADTGGEEDT EDQGLTGDEA EPFLDQSGGP GAPTTPRKLP SRPPPHYPGIKRKRSAPTSR KLLSDKPQDF QIRVQVIEGR QLPGVNIKPV VKVTAAGQTKRTRIHKGNSP LFNETLFFNL FDSPGELFDE PIFITVVDSR SLRTDALLGEFRMDVGTIYR EPRHAYLRKW LLLSDPDDFS AGARGYLKTS LCVLGPGDEAPLERKDPSED KEDIESNLLR PTGVALRGAH FCLKVFRAED LPQMDDAVMDNVKQIFGFES NKKNLVDPFV EVSFAGKMLC SKILEKTANP QWNQNITLPAMFPSMCEKMR IRIIDWDRLT HNDIVATTY
• Sequence Length: 2080

• Applicable Applications for DYSF recombinant protein: SDS-PAGE, Western Blot (WB), ELISA (EIA), Immunoprecipitation (IP)
• Predicted Molecular Mass: 56.9KDa
• Accurate Molecular Mass (KD): 57kDa
• Endotoxin: <1.0EU per 1ug (determined by the LAL method)
• Expression System: Prokaryotic expression
• Tag: two N-terminal tags, his-tag and T7 tag
• Organism Species: Homo sapiens (Human)
• Fragment: Met1~Tyr479
• Usage: Reconstitute in sterile PBS, pH7.2-pH7.4.
• Preparation and Storage: Storage: Avoid repeated freeze/thaw cycles. Store at 2-8 degree C for one month. Aliquot and store at -80 degree C for 12 months.; Stability Test: The thermal stability is described by the loss rate of the targetprotein. The loss rate was determined by accelerated thermal degradation test, that is, incubate the protein at 37 degree C for 48h, and no obvious degradation andprecipitation were observed. The loss of this protein is less than 5% within the expiration date under appropriate storage condition.

SDS-Page

NCBI and Uniprot Product Information

• NCBI GI #: 3600028
• NCBI GeneID: 8291
• Molecular Weight: 222,315 Da
• NCBI Official Full Name: dysferlin
• NCBI Official Synonym Full Names: dysferlin
• NCBI Official Symbol: DYSF
• NCBI Official Synonym Symbols: MMD1; FER1L1; LGMD2B
• NCBI Protein Information: dysferlin
• UniProt Protein Name: Dysferlin
• Protein Family: Dysferlin
• UniProt Gene Name: DYSF
• UniProt Synonym Gene Names: FER1L1
• UniProt Entry Name: DYSF_HUMAN

NCBI 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. [provided by RefSeq, Aug 2008]

Uniprot Description

DYSF: Key calcium ion sensor involved in the Ca(2+)-triggered synaptic vesicle-plasma membrane fusion. Plays a role in the sarcolemma repair mechanism of both skeletal muscle and cardiomyocytes that permits rapid resealing of membranes disrupted by mechanical stress. Defects in DYSF are the cause of limb-girdle muscular dystrophy type 2B (LGMD2B). LGMD2B is an autosomal recessive degenerative myopathy characterized by weakness and atrophy starting in the proximal pelvifemoral muscles, with onset in the late teens or later, massive elevation of serum creatine kinase levels and slow progression. Scapular muscle involvement is minor and not present at onset. Upper limb girdle involvement follows some years after the onset in lower limbs. Defects in DYSF are the cause of Miyoshi muscular dystrophy type 1 (MMD1). MMD1 is a late-onset muscular dystrophy involving the distal lower limb musculature. It is characterized by weakness that initially affects the gastrocnemius muscle during early adulthood. Otherwise the phenotype overlaps with LGMD2B, especially in age at onset and creatine kinase elevation. Defects in DYSF are the cause of distal myopathy with anterior tibial onset (DMAT). Onset of the disorder is between 14 and 28 years of age and the anterior tibial muscles are the first muscle group to be involved. Inheritance is autosomal recessive. Belongs to the ferlin family. 15 isoforms of the human protein are produced by alternative splicing.

Protein type: Calcium-binding; Vesicle; Membrane protein, integral

Chromosomal Location of Human Ortholog: 2p13.3

Cellular Component: cytoplasmic vesicle membrane; lamellipodium; endocytic vesicle; late endosome; T-tubule; early endosome; integral to membrane; plasma membrane; sarcolemma; endosome

Molecular Function: protein binding; calcium-dependent phospholipid binding; phospholipid binding; calcium ion binding

Biological Process: vesicle fusion; plasma membrane repair

Disease: Myopathy, Distal, With Anterior Tibial Onset; Muscular Dystrophy, Limb-girdle, Type 2b; Miyoshi Muscular Dystrophy 1