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DYSF

  • Official Full Name

    dysferlin

  • Overview

    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]
  • Synonyms

    DYSF; dysferlin; MMD1; FER1L1; LGMD2B; fer-1-like protein 1; dystrophy-associated fer-1-like 1; dystrophy-associated fer-1-like protein; limb girdle muscular dystrophy 2B (autosomal recessive); dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive);

  • Recombinant Proteins
  • Protein Pre-coupled Magnetic Beads
  • Human
  • Mouse
  • Zebrafish
  • E.coli
  • HEK293
  • HEK293T
  • Mammalian Cell
  • Mammalian cells
  • Flag
  • His
  • His (Fc)
  • Avi
  • Myc
  • DDK
  • Myc|DDK
Species Cat.# Product name Source (Host) Tag Protein Length Price
Human DYSF-2773H Recombinant Human DYSF Protein, MYC/DDK-tagged HEK293 Myc/DDK
Human DYSF-4000H Recombinant Human DYSF Protein, Myc/DDK-tagged, C13 and N15-labeled HEK293T Myc/DDK
Human DYSF-684H Recombinant Human DYSF Protein, His-tagged E.coli His Met1~Tyr479
Human DYSF-796H Recombinant Human DYSF Protein, His (Fc)-Avi-tagged HEK293 His (Fc)-Avi
Human DYSF-518HFL Recombinant Full Length Human DYSF Protein, C-Flag-tagged Mammalian cells Flag
Human DYSF-796H-B Recombinant Human DYSF Protein Pre-coupled Magnetic Beads HEK293
Mouse Dysf-2703M Recombinant Mouse Dysf Protein, Myc/DDK-tagged HEK293T Myc/DDK
Zebrafish DYSF-8213Z Recombinant Zebrafish DYSF Mammalian Cell His
  • DYSF Related Articles

DYSF involved in several pathways and played different roles in them. We selected most pathways DYSF participated on our site, such as , which may be useful for your reference. Also, other proteins which involved in the same pathway with DYSF were listed below. Creative BioMart supplied nearly all the proteins listed, you can search them on our site.

Pathway Name Pathway Related Protein

DYSF has several biochemical functions, for example, . Some of the functions are cooperated with other proteins, some of the functions could acted by DYSF itself. We selected most functions DYSF had, and list some proteins which have the same functions with DYSF. You can find most of the proteins on our site.

Function Related Protein

DYSF has direct interactions with proteins and molecules. Those interactions were detected by several methods such as yeast two hybrid, co-IP, pull-down and so on. We selected proteins and molecules interacted with DYSF here. Most of them are supplied by our site. Hope this information will be useful for your research of DYSF.

ten Dam, L; van der Kooi, AJ; et al. Comparing clinical data and muscle imaging of DYSF and ANO5 related muscular dystrophies. NEUROMUSCULAR DISORDERS 24:1097-1102(2014).
Kergourlay, V; Rai, G; et al. Identification of Splicing Defects Caused by Mutations in the Dysferlin Gene. HUMAN MUTATION 35:1532-1541(2014).
  • Q&As
  • Reviews

Q&As (6)

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Are variants in the DYSF gene associated with insulin resistance? 01/20/2022

Yes, some variants in the DYSF gene are associated with insulin resistance, which may be one of the reasons for its increased risk of type 2 diabetes.

What is the role of the DYSF gene in the human body? 10/14/2021

The protein encoded by the DYSF gene is a muscle-specific kinase that plays an important role in the structure and function of muscle cells.

How can lifestyle changes reduce the risk of DYSF gene variants? 08/01/2021

There is currently no definitive way to alter the variant in the DYSF gene. However, the risk of type 2 diabetes can be reduced by adhering to a healthy lifestyle, such as eating a balanced diet, exercising moderately, avoiding excessive stress, etc.

Is there a specific treatment or intervention for the DYSF gene variant? 07/27/2021

There is currently no specific treatment or intervention for the DYSF gene variant. However, the risk of type 2 diabetes can be reduced through a combination of measures such as lifestyle modifications and medications.

Are variants in the DYSF gene related to β cell function? 05/21/2021

Yes, some variants in the DYSF gene are also involved in β cell function, which may also be one of the reasons why it affects the risk of type 2 diabetes.

What are the types of DYSF gene variants? 10/18/2020

Variants in the DYSF gene include single nucleotide polymorphisms (SNPs), insertions/deletions, and some of these variants are associated with an increased risk of type 2 diabetes.

Customer Reviews (3)

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Reviews
08/14/2021

    It has good stability and is suitable for long-term storage.

    04/09/2021

      The detection method is sensitive and can detect trace amounts of protein, which is very suitable for our research.

      03/20/2021

        DYSF is easy to operate and improves the efficiency of the experiment.

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