NP_001123927.1
[Other Products]
NCBI GenBank Nucleotide #
|
[Other Products]
UniProt Secondary Accession #
UniProt Related Accession #
NCBI Official Full Name
dysferlin isoform 2
NCBI Official Synonym Full Names
dysferlin
NCBI Protein Information
dysferlin; dystrophy-associated fer-1-like 1; fer-1-like family member 1; fer-1-like protein 1; limb girdle muscular dystrophy 2B (autosomal recessive)
UniProt Protein Name
Dysferlin
UniProt Synonym Protein Names
Dystrophy-associated fer-1-like protein; Fer-1-like protein 1
UniProt Synonym Gene Names
UniProt Entry Name
DYSF_HUMAN
NCBI Summary for DYSF
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 Comments for DYSF
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: Membrane protein, integral; Vesicle; Calcium-binding
Chromosomal Location of Human Ortholog: 2p13.3
Cellular Component: cytoplasmic vesicle membrane; lamellipodium; endocytic vesicle; T-tubule; early endosome; late endosome; integral to membrane; plasma membrane; endosome; sarcolemma
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
Research Articles on DYSF
Precautions
All of MyBioSource's Products are for scientific laboratory research purposes and are not for diagnostic, therapeutics, prophylactic or in vivo use. Through your purchase, you expressly represent and warrant to MyBioSource that you will properly test and use any Products purchased from MyBioSource in accordance with industry standards. MyBioSource and its authorized distributors reserve the right to refuse to process any order where we reasonably believe that the intended use will fall outside of our acceptable guidelines.
Disclaimer
While every efforts were made to ensure the accuracy of the information provided in this datasheet, MyBioSource will not be liable for any omissions or errors contained herein. MyBioSource reserves the right to make changes to this datasheet at any time without prior notice. It is the responsibility of the customer to report product performance issues to MyBioSource within 30 days of receipt of the product. Please visit our Terms & Conditions page for more information.
Diseases associated with anti-DYSF antibody
Organs/Tissues associated with anti-DYSF antibody
|