Mutations in dysferlin, a protein associated with the plasma membrane, can cause muscle weakness that affects both proximal and distal muscles. The protein encoded by this gene is a type II membrane protein that is structurally similar to dysferlin. It is a member of the ferlin family and associates with both plasma and nuclear membranes. The protein contains C2 domains that play a role in calcium-mediated membrane fusion events, suggesting that it may be involved in membrane regeneration and repair. Two transcript variants encoding different isoforms have been found for this gene. Other possible variants have been detected, but their full-length nature has not been determined. [provided by RefSeq, Dec 2008]
Function:
Calcium/phospholipid-binding protein that plays a role in the plasmalemma repair mechanism of endothelial cells that permits rapid resealing of membranes disrupted by mechanical stress. Involved in endocytic recycling. Implicated in VEGF signal transduction by regulating the levels of the receptor KDR.
Subcellular Location:
Cell membrane. Nucleus membrane. Cytoplasmic vesicle membrane. Concentrated at the membrane sites of both myoblast-myoblast and myoblast-myotube fusions. Detected at the plasmalemma in endothelial cells lining intact blood vessels (By similarity). Found at nuclear and plasma membranes. Enriched in undifferentiated myoblasts near the plasma membrane in puncate structures.
Tissue Specificity:
Expressed in myoblast and endothelial cells (at protein level). Highly expressed in cardiac and skeletal muscles. Also present in lung, and at very low levels in kidney, placenta and brain.
Similarity:
Belongs to the ferlin family.
Contains 5 C2 domains.
SWISS:
Q9NZM1
Gene ID:
26509
Database links:
Entrez Gene: 26509 Human
Entrez Gene: 226101 Mouse
Omim: 60923 Human
SwissProt: Q9NZM1 Human
SwissProt: Q69ZN7 Mouse
Unigene: 602086 Human
Unigene: 34674 Mouse
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