Dysferlin (DYSF) Rabbit Polyclonal Antibody

Specifications

Product Data
Applications	IHC
Recommend Dilution	IHC: 25-100 Positive control: Human brain Predicted cell location: Cytoplasm
Reactivity	Human, Mouse
Host	Rabbit
Clonality	Polyclonal
Immunogen	Synthetic peptide of human DYSF
Formulation	pH7.4 PBS, 0.05% NaN3, 40% Glycerol
Concentration	lot specific
Purification	Antigen affinity purification
Conjugation	Unconjugated
Storage Condition	Store at -20°C.
Gene Name	dysferlin
Database Link	Entrez Gene 8291 Human UniProt ID O75923
Background	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.
Synonyms	dysferlin; FER1L1; FLJ00175; FLJ90168; LGMD2B; OTTHUMP00000202233; OTTHUMP00000202234; OTTHUMP00000202235; OTTHUMP00000202236; OTTHUMP00000202237; OTTHUMP00000202240
Reference Data

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