DYSF Antilichaam - middengebied: FITC (ARP45479_P050-FITC)

Dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive)

MMD1, FER1L1, LGMD2B, LGMDR2

8291

O75923

NP_003485

Human, Mouse, Rat, Cow, Dog, Guinea Pig, Horse, Rabbit

The immunogen is a synthetic peptide directed towards the middle region of human DYSF

DYSF 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, DYSF 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.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. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Entrez Gene record to access additional publications.

UBC; HECW2; HDAC6; CAV3; ANXA2; ANXA1; CAPN3

FITC: Fluorescein Isothiocyanate

Polyclonal Antibody

WB

Affinity Purified

0.5 mg/ml

Cow: 93%; Dog: 93%; Guinea Pig: 100%; Horse: 93%; Human: 100%; Mouse: 100%; Rabbit: 100%; Rat: 100%

Liquid. Purified antibody supplied in 1x PBS buffer.

All conjugated antibodies should be stored in light-protected vials or covered with a light protecting material (i.e. aluminum foil) . Conjugated antibodies are stable for at least 12 months at 4C. If longer storage is desired (24 months), conjugates may be diluted with up to 50% glycerol and stored at -20C to -80C. Freezing and thawing conjugated antibodies will compromise enzyme activity as well as antibody binding.

237kDa

Bashir, R., Neuromuscul. Disord. 17 (11-12), 950-954 (2007)

Wet Ice

2080

DYSF

DYSF

Rabbit

Dysferlin

NM_003494

IVRAFGLQPKDPNGKCDPYIKISIGKKSVSDQDNYIPCTLEPVFGKMFEL