Recombinant Human Dysferlin (DYSF), Truncated

Cat.No	ACP21054	Target Name	DYSF
Form	Lyophilized powder	Expression System	Custom Production. Please inquire and provide the desire expression system.
Protein Length	Partial	Purity	>85% (SDS-PAGE)
Storage Buffer	5%-50% glycerol. Lyophilized powder form: the buffer before lyophilization is Tris/PBS-based buffer, 6% Trehalose, Liquid form: default storage buffer is Tris/PBS-based buffer, pH 8.0.

Cat.No

ACP21054

Target Name

DYSF

Form

Lyophilized powder

Expression System

Custom Production. Please inquire and provide the desire expression system.

Protein Length

Partial

Purity

>85% (SDS-PAGE)

Storage Buffer

5%-50% glycerol. Lyophilized powder form: the buffer before lyophilization is Tris/PBS-based buffer, 6% Trehalose, Liquid form: default storage buffer is Tris/PBS-based buffer, pH 8.0.

Target Species	Human	Uniprot ID	O75923

Background Information

Uniprot Id

O75923
Target Species

Human
Target Name

DYSF
Target Full Name

Dysferlin
Target Function

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.
Target Involvement

Limb-girdle muscular dystrophy 2B (LGMD2B); Miyoshi muscular dystrophy 1 (MMD1); Distal myopathy with anterior tibial onset (DMAT)
Target Subcellular Location

Cell membrane, sarcolemma; Single-pass type II membrane protein. Cytoplasmic vesicle membrane; Single-pass type II membrane protein. Cell membrane.
Target Protein Families

Ferlin family
Target Tissue Specificity

Expressed in skeletal muscle, myoblast, myotube and in the syncytiotrophoblast (STB) of the placenta (at protein level). Ubiquitous. Highly expressed in skeletal muscle. Also found in heart, brain, spleen, intestine, placenta and at lower levels in liver,
Target Synonyms

DMAT; DYSF; DYSF_HUMAN; Dysferlin; Dysferlin limb girdle muscular dystrophy 2B (autosomal recessive); Dysferlin limb girdle muscular dystrophy 2B; Dystrophy associated fer 1 like 1; Dystrophy associated fer 1 like protein; Dystrophy associated fer1 like 1; Dystrophy associated fer1 like protein; Dystrophy-associated fer-1-like protein; Fer 1 like protein 1; Fer-1-like protein 1; Fer1 like protein 1; FER1L1; FLJ00175; FLJ90168; LGMD 2B; LGMD2B; Limb girdle muscular dystrophy 2B (autosomal recessive); Limb girdle muscular dystrophy 2B; Miyoshi myopathy; MM; MMD1
Target 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.

Recombinant Human Dysferlin (DYSF), Truncated

Specifications

Immunogen Information

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