DYSF sirna

DYSF siRNA (Human)

Cat. Num. AAA828405

• Gene Names: DYSF; MMD1; FER1L1; LGMD2B
• Reactivity: Human
• Applications: RNA Interference (RNAi)
• Purity: > 97%
• Synonyms: DYSF; DYSF siRNA (Human); FER1L1; Dysferlin; Dystrophy-associated fer-1-like protein; Fer-1-like protein 1; DYSF sirna

• Host: Synthetic
• Reactivity: Human
• Specificity: DYSF siRNA (Human) is a target-specific 19-23 nt siRNA oligo duplexes designed to knock down gene expression.
• Purity/Purification: > 97%
• Form/Format: Lyophilized powder
• Sequence Length: 2081

• Applicable Applications for DYSF sirna: RNA Interference (RNAi)
• Quality Control: Oligonucleotide synthesis is monitored base by base through trityl analysis to ensure appropriate coupling efficiency. The oligo is subsequently purified by affinity-solid phase extraction. The annealed RNA duplex is further analyzed by mass spectrometry to verify the exact composition of the duplex. Each lot is compared to the previous lot by mass spectrometry to ensure maximum lot-to-lot consistency.
• Directions for Use: We recommends transfection with 100 nM siRNA 48 to 72 hours prior to cell lysis. Before resuspending, briefly centrifuge the tube to ensure the lyophilized siRNA is at the bottom of the tube. Resuspend the siRNA oligos to an appropriate concentration with DEPC water. For each vial, suitable for 250 transfections in 24 well plate (20 pmol for each well).
• Components: We offer pre-designed sets of 3 different target-specific siRNA oligo duplexes of human DYSF gene. Each vial contains 5 nmol of lyophilized siRNA. The duplexes can be transfected individually or pooled together to achieve knockdown of the target gene, which is most commonly assessed by qPCR or western blot. Our siRNA oligos are also chemically modified (2'-OMe) at no extra charge for increased stability and enhanced knockdown in vitro and in vivo.
• Preparation and Storage: Shipped at 4 degree C. Store at -20 degree C for one year.

Related Product Information for DYSF sirna

siRNA to inhibit DYSF expression using RNA interference

NCBI and Uniprot Product Information

• NCBI GI #: 195976821
• NCBI GeneID: 8291
• NCBI Accession #: NP_001123927.1
• NCBI GenBank Nucleotide #: NM_001130455.1
• UniProt Accession #: O75923; A0FK00; B1PZ70; B1PZ71; B1PZ72; B1PZ73; B1PZ74; B1PZ75; B1PZ76; B1PZ77; B1PZ78; B1PZ79
• Molecular Weight: 222,315 Da
• NCBI Official Full Name: dysferlin isoform 2
• 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; endocytic vesicle; lamellipodium; late endosome; early endosome; T-tubule; plasma membrane; integral to 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; Miyoshi Muscular Dystrophy 1; Muscular Dystrophy, Limb-girdle, Type 2b